MYH6 - myosin heavy chain 6 Gene

Also Known as ASD3; MYHC; SSS3; CMH14; MYHCA; CMD1EE; alpha-MHC

生物種: Homo sapiens

遺伝子タイプ: protein coding

遺伝子ID: 4624

About MYH6

Cytogenetic location: 14q11.2 Genomic coordinates (GRCh38): 14:23,381,987-23,408,273 (from NCBI)

This gene has 3 transcripts (splice variants), 262 orthologues, 43 paralogues and is associated with 10 phenotypes. Restricted expression toward heart (RPKM 1273.8).

Summary

Cardiac muscle Myosin is a hexamer consisting of two heavy chain subunits, two light chain subunits, and two regulatory subunits. This gene encodes the alpha heavy chain subunit of cardiac Myosin. The gene is located approximately 4kb downstream of the gene encoding the beta heavy chain subunit of cardiac Myosin. Mutations in this gene cause familial hypertrophic cardiomyopathy and atrial septal defect 3. [provided by RefSeq, Feb 2017]

MYH6 Products (1)

mRNA	Protein	Name
NM_002471.4	NP_002462.2	myosin-6

Gene Ontology

Molecular Function
Biological Process

Molecular Function GO Annotation	Evidence	参考文献	由来
enables microfilament motor activity	IDA IDA: Inferred from direct assay	15621050	GOA
enables microfilament motor activity	IMP IMP: Inferred from mutant phenotype	16088376	GOA
enables protein kinase binding	IPI IPI: Inferred from physical interaction	18029400	GOA

Biological Process GO Annotation	Evidence	参考文献	由来
involved in ATP metabolic process	IDA IDA: Inferred from direct assay	15621050	GOA
involved in adult heart development	IMP IMP: Inferred from mutant phenotype	15735645	GOA
involved in atrial cardiac muscle tissue morphogenesis	IMP IMP: Inferred from mutant phenotype	15735645	GOA
involved in muscle contraction	IDA IDA: Inferred from direct assay	15621050	GOA
involved in muscle filament sliding	IMP IMP: Inferred from mutant phenotype	16088376	GOA
involved in regulation of heart rate	IDA IDA: Inferred from direct assay	15621050	GOA
involved in regulation of the force of heart contraction	IDA IDA: Inferred from direct assay	15621050	GOA
involved in striated muscle contraction	IMP IMP: Inferred from mutant phenotype	15621050	GOA
involved in ventricular cardiac muscle tissue morphogenesis	IMP IMP: Inferred from mutant phenotype	11815426	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

MYH6 Protein Structure

Myosin_N

Myosin_head

Myosin_tail_1

0
300
600
900
1200
1500
1800
1939 a.a.

Protein Preferred Names	Protein Names
myosin-6	myHC-alpha

MYH6 抗体

製品番号	製品名	アプリケーション	反応性
HY-P83455	Myosin heavy chain Antibody (YA3200)	WB, IHC-P	Human, Mouse, Rat
HY-P85656	Myosin Heavy Chain Antibody (YA5348)	ICC/IF	Human, Mouse, Rat, FruitFly, Nematode

関連疾患

Diseases	Alias
Cardiomyopathy, Dilated, 1ee	Dilated Cardiomyopathy 1ee CMD1EE Cardiomyopathy, Dilated 1ee Cardiomyopathy, Dilated, Type 1ee
Atrial Septal Defect 3	ASD3 Atrial Heart Septal Defect 3 Septal Defect, Atrial, Type 3
Sick Sinus Syndrome 3	Sick Sinus Syndrome 3, Susceptibility To SSS3
Cardiomyopathy, Familial Hypertrophic, 14	Hypertrophic Cardiomyopathy 14 CMH14 Cardiomyopathy, Hypertrophic, 14 Cardiomyopathy Familial Hypertrophic 14 Cardiomyopathy, Familial Hypertrophic 14 Cardiomyopathy, Hypertrophic, Familial, Type 14
Heart, Malformation Of
Heart Disease	Heart Failure Congenital Heart Disease Heart Diseases Congenital Heart Defects Congenital Heart Defect Heart Malformation Congenital Anomaly Of Heart Heart Defect Heart-Congenital Defect Congenital Heart Disorder Heart Defects Congenital Heart Defects, Congenital Heart Defects Heart Disease, Congenital Disease, Heart, Congenital Congestive Heart Failure
Cardiomyopathy, Familial Hypertrophic, 1	Asymmetric Septal Hypertrophy Familial Hypertrophic Cardiomyopathy Hypertrophic Cardiomyopathy 1 CMH1 Hypertrophic Cardiomyopathy 19 CMH Ventricular Hypertrophy, Hereditary Ash Hypertrophic Subaortic Stenosis, Idiopathic Cardiomyopathy, Familial Hypertrophic Cardiomyopathy, Hypertrophic, 1, Digenic Cardiomyopathy, Familial Hypertrophic 1 Hcm Hereditary Ventricular Hypertrophy Idiopathic Hypertrophic Subaortic Stenosis Hypertrophic Cardiomyopathy Cardiomyopathy, Hypertrophic, Familial Cardiomyopathy, Hypertrophic, 1 Familial Asymmetric Septal Hypertrophy Heritable Hypertrophic Cardiomyopathy Fhc Cardiomyopathy, Hypertrophic, Familial, Type 1
Dilated Cardiomyopathy	Familial Dilated Cardiomyopathy Primary Dilated Cardiomyopathy Idiopathic Dilated Cardiomyopathy Congestive Cardiomyopathy Idiopathic Dilation Cardiomyopathy Primary Familial Dilated Cardiomyopathy Cardiomyopathy, Dilated DCM Cardiomyopathy, Familial Dilated Dilated Cardiomyopathy, Familial Hypokinetic Dilated Cardiomyopathy, Familial Familial Idiopathic Cardiomyopathy Fdc Cardiomyopathy, Familial Idiopathic Idiopathic Cardiomegaly Dilated Congestive Cardiomyopathy Chronic Dilated Cardiomyopathy Ccm - [Congestive Cardiomyopathy] Cocm - [Congestive Cardiomyopathy] Dcm - [Dilated Cardiomyopathy] Dilated-Hypokinetic Cardiomyopathy Congestive Idiopathic Cardiomyopathy Primary Idiopathic Dilated Cardiomyopathy
Cardiomyopathy, Dilated, 1b	Cardiomyopathy, Familial Dilated, 1 Cardiomyopathy, Dilated 1b CMD1B Cmpd1 Cardiomyopathy, Familial Dilated Fdc Dilated Cardiomyopathy 1b Familial Dilated Cardiomyopathy
Patent Foramen Ovale	Atrial Septal Defect Within Oval Fossa Foramen Ovale Patent Ostium Secundum Atrial Septal Defect Atrial Septal Defect, Ostium Secundum Type Foramen Ovale, Patent Defect, Patent Or Persistent, Ostium Secundum Ostium Secundum Type Atrial Septal Defect Persistent Ostium Secundum Asd Ostium Secundum Type Ostium Secundum Asd Osasd Asd, Ostium Secundum Type Pfo - [Patent Foramen Ovale] Open Foramen Ovale Open Oval Foramen Persistent Foramen Ovale Secundum Atrial Septal Defect
Familial Isolated Dilated Cardiomyopathy	Familial Or Idiopathic Dilated Cardiomyopathy
Familial Sick Sinus Syndrome	Familial Sinus Node Dysfunction
Sick Sinus Syndrome	Sinus Node Dysfunction Sinus Node Disease Sinus Node Infection Snd Sss Snd - [Sinus Node Dysfunction] Sinoatrial Node Dysfunction Sss - [Sick Sinus Syndrome] Sick Sinus Sick Sinus Tachycardia
Wolff-Parkinson-White Syndrome	Wolff-Parkinson-White Pattern Wpw Syndrome Anomalous Atrioventricular Excitation Anomalous A-V Excitation Ventricular Pre-Excitation With Arrhythmia WPWS Ventricular Familial Preexcitation Syndrome Preexcitation Syndrome Ventricular Preexcitation Wpw - [Wolff-Parkinson- White] Syndrome Pre-Excitation Syndrome
Holt-Oram Syndrome	HOS Atriodigital Dysplasia Heart-Hand Syndrome Atrio-Digital Syndrome Cardiac-Limb Syndrome Heart-Hand Syndrome, Type 1 Ventriculo-Radial Syndrome Hos1 Heart Hand Syndrome Atrio Digital Syndrome Hos 1 Atriodigital Dysplasia Type 1 Heart-Hand Syndrome Type 1 Holt Oram Syndrome
Myocarditis	Myocardial Inflammation Inflammatory Cardiomyopathy
Cardiac Conduction Defect	Sudden Cardiac Death Cardiac Conduction Defect, Susceptibility To SCD Cardiac Conduction Abnormality Death Sudden Cardiac Cardiac Conduction Disease Conduction Disorder Of The Heart
Congestive Heart Failure	Congestive Heart Disease Heart Failure Cardiac Failure Congestive Chf Weak Heart Heart Failure Congestive Ccf - [Congestive Cardiac Failure] Chf - [Congestive Heart Failure] Congestive Cardiac Diseases Congested Heart Failure Congestive Cardiac Failure Cardiac Anasarca Cardiac Oedema Cardiac Stasis Cardiovascular Oedema Cardiac Hydrops Congestive Failure Heart Congestion Heart Fluid Oedematous Heart
Hypoplastic Left Heart Syndrome	Hlhs Heart, Hypoplastic Left, Syndrome Hypoplasia Of The Left Heart Left Heart Hypoplasia Syndrome Hlhs - [Hypoplastic Left Heart Syndrome] Hypoplasia Of Aortic Valve, In Hypoplastic Left Heart Syndrome Atresia Of Mitral Valve, In Hypoplastic Left Heart Syndrome Atresia Or Marked Hypoplasia Of Aortic Orifice Or Valve, With Hypoplasia Of Ascending Aorta And Defective Development Of Left Ventricle Atresia Or Marked Hypoplasia, Of Aortic Orifice Or Valve, With Hypoplasia Of Ascending Aorta And Defective Development Of Left Ventricle With Mitral Valve Atresia Aortic Valve Atresia, In Hypoplastic Left Heart Syndrome Ascending Aorta Hypoplasia, In Hypoplastic Left Heart Syndrome
Hyaline Body Myopathy	Myosin Storage Myopathy Autosomal Dominant Hyaline Body Myopathy Myopathy, Myosin Storage
Myopathy, Distal, 1	Laing Distal Myopathy Laing Early-Onset Distal Myopathy MPD1 Distal Myopathy 1 Myopathy, Distal, Early-Onset, Autosomal Dominant Distal Myopathy Type 1 Gowers Disease Myopathy, Late Distal Hereditary Myopathy Distal, Type 1 Myopathy Distal Early-Onset Autosomal Dominant Myopathy Late Distal Hereditary Myopathy, Distal, Type 1 Welander Distal Myopathy
Hypertrophic Cardiomyopathy	Hypertrophic Obstructive Cardiomyopathy Cardiomyopathy, Hypertrophic Cardiomyopathy Hypertrophic Obstructive Cardiomyopathy, Hypertrophic, Familial Idiopathic Myocardial Hypertrophy Idiopathic Hypertrophic Cardiomyopathy Obstructive Idiopathic Hypertrophic Cardiomyopathy Obstructive Cardiomyopathy Idiopathic Hypertrophic Subaortic Stenosis Muscular Subaortic Stenosis Hypertrophic Obstructive Subaortic Stenosis
Batten-Turner Congenital Myopathy	Congenital Myopathy Batten Turner Congenital Myopathy Myopathy Congenital Myopathy, Congenital Myotonia Congenita Benign Congenital Myopathy
Sinoatrial Node Disease	Sa Node Sinuatrial Node Sinus Node Dysfunction
Myopathy, Proximal, With Ophthalmoplegia	Proximal Myopathy And Ophthalmoplegia Myopathy With Congenital Joint Contractures, Ophthalmoplegia, And Rimmed Vacuoles Inclusion Body Myopathy 3 Ibm3 Myopathy, Proximal, And Ophthalmoplegia MYPOP Hibm3 Hereditary Inclusion Body Myopathy Type 3 Childhood-Onset Autosomal Recessive Myopathy With External Ophthalmoplegia Inclusion Body Myopathy 3, Autosomal Dominant Inclusion Body Myopathy 3, Autosomal Dominant, Formerly Ibm3, Formerly Hereditary Inclusion Body Myopathy - Joint Contractures - Ophthalmoplegia Inclusion Body Myopathy Autosomal Dominant Hereditary Inclusion Body Myopathy-Joint Contractures-Ophthalmoplegia Syndrome Inclusion Body Myopathy Type 3 Inclusion Body Myopathy-3 Inclusion Body Myopathy, Autosomal Dominant
Atrial Heart Septal Defect	Atrial Septal Defect Atrial Septal Defects Atrioseptal Defect Auricular Septal Defect Congenital Atrial Septal Defect Interatrial Septal Defect Interauricular Septal Defect Heart Septal Defects, Atrial Septal Defect, Atrial
Intrinsic Cardiomyopathy
Arthrogryposis, Distal, Type 2a	Freeman-Sheldon Syndrome Craniocarpotarsal Dystrophy Craniocarpotarsal Dysplasia DA2A Whistling Face-Windmill Vane Hand Syndrome Fss Distal Arthrogryposis Type 2a Whistling Face Syndrome Freeman-Burian Syndrome Arthrogryposis Distal Type 2a Distal Arthrogryposis, Type 2a Fbs Arthrogryposis, Distal, 2a
Autoimmune Myocarditis
Ebstein Anomaly	Ebstein'S Anomaly Ebstein'S Anomaly Of Common Atrioventricular Valve Ebstein'S Anomaly Of Right Atrioventricular Valve Ebstein'S Anomaly Of Tricuspid Valve Ebstein'S Malformation Ebstein Malformation Of The Tricuspid Valve Ebstein Anomaly Of The Tricuspid Valve Ebstein Disease Accessory Tricuspid Valve Tissue Congenital Ebstein Deformity Of Tricuspid Valve Ebstein Syndrome Ebstein Cardiopathy Ebstein Anomaly Of Tricuspid Valve
Miyoshi Muscular Dystrophy	Distal Myopathy Distal Muscular Dystrophy Miyoshi Myopathy Distal Myopathies Dystrophy, Muscular, Miyoshi Myopathy, Distal Distal Muscular Dystrophies
Syndromic X-Linked Intellectual Disability 34	Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome Mental Retardation, X-Linked, Syndromic 34 Mrxs34 Mrxsml Syndromic X-Linked Mental Retardation Mircsof-Langouet Type
Scapuloperoneal Myopathy
Myopathy	Muscular Diseases Myopathies
Heart Septal Defect	Septal Defect Heart Septal Defects Cardiac Septal Defects Congenital Septal Defect Of Heart
Danon Disease	Pseudoglycogenosis Ii Antopol Disease Glycogen Storage Disease Iib Glycogen Storage Disease Type 2b Glycogen Storage Disease Type Iib Gsd2b Lysosomal Glycogen Storage Disease Without Acid Maltase Deficiency Vacuolar Cardiomyopathy And Myopathy X-Linked Vacuolar Cardiomyopathy And Myopathy, X-Linked Lysosomal Glycogen Storage Disease Without Acid Maltase Deficiency, Formerly Gsd2b, Formerly Gsd Iib, Formerly Glycogen Storage Cardiomyopathy Glycogen Storage Disease Limited To The Heart Pseudoglycogenosis 2 X-Linked Vacuolar Cardiomyopathy And Myopathy Lysosomal Glycogen Storage Disease With Normal Acid Maltase Glycogen Storage Disease Due To Lamp-2 Deficiency Gsd Due To Lamp-2 Deficiency Glycogenosis Due To Lamp-2 Deficiency Lysosomal Glycogen Storage Disease With Normal Acid Maltase Activity DAND Gsd-Iib
Tricuspid Valve Disease	Rheumatic Tricuspid Valve Disease Disease Of Tricuspid Valve Rh. Tricuspid Valve Disease Rheumatic Disease Of Tricuspid Valve Tricuspid Disease Tricuspid Valve Disorder
Peripartum Cardiomyopathy	Postpartum Cardiomyopathy Peripartum Cardiomyopathy, Susceptibility To Ppcm Ppcm, Susceptibility To Antepartum Peripartum Cardiomyopathy Postpartum Peripartum Cardiomyopathy Meadows' Syndrome Cardiomyopathy, Peripartum
Systolic Heart Failure	Heart Failure, Systolic
Congenital Fiber-Type Disproportion	Congenital Fiber Type Disproportion Cftdm Congenital Myopathy With Fiber Type Disproportion Cftd Congenital Fiber-Type Disproportion Myopathy Fiber-Type Disproportion Myopathy, Congenital Myopathy, Congenital With Fiber-Type Disproportion
Left Ventricular Noncompaction	Noncompaction Cardiomyopathy Left Ventricular Hypertrabeculation Lvnc Spongy Myocardium Isolated Noncompaction Of The Ventricular Myocardium Left Ventricular Myocardial Noncompaction Cardiomyopathy Fetal Myocardium Honeycomb Myocardium Hypertrabeculation Syndrome Left Ventricular Non-Compaction Lvht Non-Compaction Of The Left Ventricular Myocardium Ventricular Noncompaction, Left Non-Compaction Cardiomyopathy
Restrictive Cardiomyopathy	Familial Restrictive Cardiomyopathy Cardiomyopathy, Restrictive Cardiomyopathy, Constrictive Primary Restrictive Cardiomyopathy Rcm Cardiomyopathy Restrictive
Endocardial Fibroelastosis	Endomyocardial Fibroelastosis Elastomyofibrosis EFE Efe - [Endocardial Fibroelastosis] Primary Endocardial Fibroelastosis Fibroelastosis Cordis Fetal Endocarditis Fibroelastosis Congenital Endocardial Fibroelastosis Congenital Valvular Endocarditis
Multiminicore Disease	Multiminicore Myopathy Mmd Minicore Disease Minicore Myopathy Multi-Core Congenital Myopathy Multi-Core Disease Multi-Minicore Disease Multicore Disease Multicore Myopathy Minicore Myopathy With External Ophthalmoplegia
Myasthenic Syndrome, Congenital, 20, Presynaptic	Congenital Myasthenic Syndrome 20 CMS20 Congenital Myasthenic Syndrome 20 Presynaptic Myasthenic Syndrome, Congenital, Type 20, Presynaptic
Muscular Dystrophy, Congenital, Lmna-Related	Congenital Muscular Dystrophy Congenital Muscular Dystrophy Due To Lmna Mutation MDCL L-Cmd Lmna-Related Congenital Muscular Dystrophy Muscular Dystrophy, Congenital Congenital Muscular Dystrophy Lmna-Related Lmna-Related Cmd Cmd Mdc Muscular Dystrophy Congenital Lmna-Related Dystrophy, Muscular, Congenital, Lmna-Related Dystrophy, Muscular, Congenital Hereditary Muscular Dystrophy Congenital Hereditary Muscular Dystrophy Congenital Progressive Muscular Dystrophy Hereditary Progressive Muscular Dystrophy
Mitral Valve Disease	Chronic Rheumatic Mitral Valve Rheumatic Mitral Insufficiency Disease Of Mitral Valve Mitral Rh Valve Dis. Rheumatic Disease Of Mitral Valve Rheumatic Mitral Valve Changes Rheumatic Mitral Valve Incompetence Rheumatic Mitral Valve Regurgitation Abnormality Of The Mitral Valve Diseases Of Mitral Valve Rheumatic Mitral Regurgitation
Mitral Valve Insufficiency	Mitral Regurgitation Congenital Insufficiency Of Mitral Valve Congenital Mitral Insufficiency Congenital Mitral Regurgitation Mitral Valve Incompetence Mitral Valve Regurgitation Mr - [Mitral Regurgitation] Mi - [Mitral Incompetence] Mitral Valve Annular Incompetency Congenital Mitral Valve Incompetence Congenital Mitral Valve Insufficiency Congenital Mitral Valve Regurgitation Congenital Mitral Incompetence
Diastolic Heart Failure	Heart Failure, Diastolic
Facioscapulohumeral Muscular Dystrophy 1	Facioscapulohumeral Muscular Dystrophy Fshd Landouzy-Dejerine Muscular Dystrophy Muscular Dystrophy, Facioscapulohumeral FSHD1 Fshd1a Muscular Dystrophy, Facioscapulohumeral, Type 1a Facioscapulohumeral Muscular Dystrophy Type 1a Fsh Muscular Dystrophy Facioscapulohumeral Muscular Dystrophy 1a Facioscapulohumeral Atrophy Facioscapulohumeral Myopathy Muscular Dystrophy, Facioscapulohumeral, Type 1 Facioscapulohumeral Muscular Dystrophy Type 1 Landouzy Dejerine Muscular Dystrophy Muscular Dystrophy, Landouzy-Dejerine Fshmd1a Facio-Scapulo-Humeral Dystrophy Facioscapulohumeral Type Progressive Muscular Dystrophy Facioscapuloperoneal Muscular Dystrophy Facioscapulohumeral Dystrophy Fsh Dystrophy Landouzy-Dejerine Dystrophy Landouzy-Dejerine Myopathy Fmd Facioscapulohumeral Muscular Dystrophy-1a Muscular Dystrophy Facioscapulohumeral Dystrophy, Muscular, Facioscapulohumeral Dystrophy, Muscular, Facioscapulohumeral, Type 1 Landouzy-Dejerine Disease Landouzy-Déjerine Atrophy Facioscapulohumeral Muscle Dystrophy Fmd - [Facioscapulohumeral Muscular Dystrophy] Fsh - [Facioscapulohumeral Muscular Dystrophy] Fshd - [Facioscapulohumeral Muscular Dystrophy] Landouzy-Déjerine Dystrophy Or Facioscapulohumeral Atrophy Landouzy-Déjérine Muscular Dystrophy
Muscle Tissue Disease
Hypertensive Heart Disease
Heart Valve Disease	Heart Valve Diseases Valvular Heart Disease Valvular Heart Diseases Heart Valve Prolapse
Catecholaminergic Polymorphic Ventricular Tachycardia	Cpvt Catecholamine-Induced Polymorphic Ventricular Tachycardia Familial Polymorphic Ventricular Tachycardia Malignant Paroxysmal Ventricular Tachycardia Multifocal Ventricular Premature Beats Stress-Induced Polymorphic Ventricular Tachycardia Bidirectional Tachycardia Induced By Catecholamine Double Tachycardia Induced By Catecholamines Polymorphic Catecholergic Ventricular Tachycardia Syncopal Paroxysmal Tachycardia Bidirectional Tachycardia Induced By Catecholamines Fpvt Bidirectional Ventricular Tachycardia Induced By Catecholamine Polymorphic Ventricular Tachycardia Induced By Catecholamines Ventricular Tachycardia, Catecholaminergic Polymorphic Ventricular Tachycardia, Catecholaminergic Polymorphic, 1 Familial Ventricular Tachycardia Multifocal Pvcs Multifocal Premature Ventricular Beats
Barth Syndrome	3-Methylglutaconic Aciduria Type 2 BTHS Cardioskeletal Myopathy With Neutropenia And Abnormal Mitochondria Mga Type Ii Mga2 Mgca2 Mga Type 2 3-Methylglutaconic Aciduria Type Ii 3-Methylglutaconic Aciduria, Type Ii Mga, Type Ii 3-Methylglutaconicaciduria Type 2 3-Methylglutaconicaciduria Type Ii Taz Defect 3 Methylglutaconic Aciduria, Type Ii Dnajc19 Defect Cardioskeletal Myopathy-Neutropenia Syndrome X-Linked Cardioskeletal Myopathy And Neutropenia 3-Alpha-Methylglutaconic Aciduria Type 2 Agm2 Cardioskeletal Myopathy-Neutropenia Invm Left Ventricular Non-Compaction Isolated X-Linked Non-Compaction Of Left Ventricular Myocardium Isolated X-Linked Agammaglobulinemia 2, Autosomal Recessive
Distal Arthrogryposis	Arthrogryposis Multiplex Congenita Arthrogryposis Congenital Multiple Arthrogryposis Congenital Arthromyodysplasia Fibrous Ankylosis Of Multiple Joints Guerin-Stern Syndrome Guérin-Stern Syndrome Myodystrophia Fetalis Deformans Otto Syndrome Rocher-Sheldon Syndrome Rossi Syndrome Amc Multiple Congenital Arthrogryposis Arthrogryposis Syndrome Arthrogryposis, Distal Distal Arthrogryposis Syndrome Freeman-Sheldon Syndrome Arthrogryposis, Distal, Type 2b Congenital Multiplex Arthrogryposis Amyoplasia Congenita Congenital Amyoplasia Amc - [Arthrogryposis Multiplex Congenita]
Muscular Disease
Atrioventricular Block	Av Block
Extrinsic Cardiomyopathy
Aortic Valve Disease 1	Aortic Valve Disease Bicuspid Aortic Valve Aortic Valve Disorder AOVD1 Bav Bicuspid Aortic Valve Disease Familial Bicuspid Aortic Valve Aortic Valve Calcification Aovd Aortic Valve, Bicuspid Aortic Valve, Calcification Of Aortic Stenosis, Calcific Familial Bav Calcific Aortic Stenosis Calcification Of Aortic Valve Abnormality Of The Aortic Valve Aortic Valve Disease, Type 1 Aortic Valve Disease 2 Bicommissural Aortic Valve
Rasopathy	Ras/Mitogen-Activated Protein Kinase Syndrome
Arthrogryposis, Distal, Type 2b3	DA2B3 Distal Arthrogryposis Type 2b3 Arthrogryposis, Distal, 2b3
Charcot-Marie-Tooth Disease	Cmt Hmsn Hereditary Motor And Sensory Neuropathy Pma Cmt - Charcot-Marie-Tooth Disease Charcot Marie Tooth Disease Charcot-Marie-Tooth Hereditary Neuropathy Charcot-Marie-Tooth Syndrome Peroneal Muscular Atrophy Hereditary Motor And Sensory Neuropathies
Aortic Valve Disease 2	Aortic Valve Stenosis Aortic Stenosis Rheumatic Aortic Stenosis AOVD2 Bicuspid Aortic Valve Rheumatic Aortic Valve Stenosis Valvular Aortic Stenosis Aortic Valve Disease, Type 2 Aortic Valve Stricture Aortic Valve Obstruction Obstructed Aorta Valve Rheumatic Aortic Obstruction Rheumatic Aortic Valve Obstruction Rheumatic Aortic Stricture Aortic Valve Regurgitation Aortic Insufficiency With Stenosis Rheumatic Aortic Valve Stenosis With Insufficiency Rheumatic Aortic Stenosis With Incompetence Rheumatic Aortic Stenosis With Regurgitation
Noonan Syndrome With Multiple Lentigines	Leopard Syndrome Multiple Lentigines Syndrome Moynahan Syndrome Cardiomyopathic Lentiginosis Progressive Cardiomyopathic Lentiginosis Cardio-Cutaneous Syndrome Lentiginosis Profusa Capute-Rimoin-Konigsmark-Esterly-Richardson Syndrome Generalized Lentiginosis Gorlin Syndrome Ii Lentiginosis Profusa Syndrome Lentigines, Electrocardiographic Conduction Abnormalities, Ocular Hypertelorism, Pulmonic Stenosis, Abnormal Genitalia, Retardation Of Growth, Deafnes Diffuse Lentiginosis Nsml Familial Multiple Lentigines Syndrome Alopecia-Epilepsy-Intellectual Disability Syndrome, Moynahan Type Progressive Cardiomyopathic Lentiginosis Syndrome Alopecia Epilepsy Oligophrenia Syndrome Of Moynahan
Heart Conduction Disease	Conduction Disorder Of The Heart Heart Rhythm Disease
Lipoprotein Quantitative Trait Locus	Coronary Artery Disease Coronary Artery Anomaly Coronary Artery Disease, Susceptibility To Myocardial Ischemia Congenital Anomaly Of Coronary Artery Coronary Arteriosclerosis Coronary Disease Coronary Heart Disease Coronary Artery Disorder LPAQTL Lpa Deficiency, Congenital Coronary Artery Abnormality Coronary Artery Anomaly, Congenital Chd Coronary Syndrome Congenital Malformations Of Coronary Vessels Malformation Of Coronary Vessels Congenital Coronary Artery Anomaly Congenital Coronary Artery Deformity Congenital Coronary Artery Disorder Abnormal Coronary Artery Congenital Coronary Artery Malposition Congenital Coronary Disease Congenital Anomaly Of Coronary Arteries
Myofibrillar Myopathy	Desmin Related Myopathy Myotilinopathy Myopathy, Myofibrillar Alpha Beta Crystallinopathy Desmin Storage Myopathy Desminopathy Filaminopathy Protein Surplus Myopathy Zaspopathy Myofibrillar Myopathies Myopathy, Myofibrillar, Desmin-Related Myopathy, Desmin Storage Mfm - [Myofibrillar Myopathy]
Double Outlet Right Ventricle	Double Outlet Right Ventricle With Subpulmonary Ventricular Septal Defect Taussig-Bing Syndrome Dextrotransposition Of Aorta Taussig-Bing Syndrome Or Defect Dorv Dorv With Subpulmonary Vsd Dorv-Tga Double Outlet Right Ventricle With Transposition Of The Great Arteries Double Outlet Right Ventricle With Subpulmonary Interventricular Communication, Transposition Type Taussig-Bing Heart Taussig-Bing Malformation Taussig-Bing Complex Taussig-Bing Defect Taussig-Bing Double Outlet Right Ventricle With Remote Ventricular Septal Defect Double Outlet Right Ventricle With Uncommitted Ventricular Septal Defect Double Outlet Right Ventricle With Non-Committed Interventricular Communication Double Outlet Right Ventricle With Subaortic Or Doubly Committed Interventricular Communication Without Pulmonary Stenosis Double Outlet Right Ventricle With Subaortic Or Doubly Committed Interventricular Communication And Pulmonary Stenosis
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3	Catecholaminergic Polymorphic Ventricular Tachycardia 3 CPVT3 Cvpt3 Tachycardia, Ventricular, Catecholaminergic Polymorphic, Type 3
Ventricular Septal Defect	Ventricular Septal Defects Interventricular Septal Defect Heart Septal Defects, Ventricular Ventricular Septal Abnormality Interventricular Septum Defect Ventricular Septum Defect Vsd - [Ventricular Septum Defect] Congenital Ventricular Septal Defect Single Ventricular Septal Defect
Atrioventricular Septal Defect	AVSD Atrioventricular Canal Defect Avcd Endocardial Cushion Defect Ecd Avc Defect Atrioventricular Septal Defect, Susceptibility To, 1 Atrioventricular Septal Defect 1 Endocardial Cushion Defects Septal Defect, Atrioventricular Atrioventricular Defect With Atrial Shunting Only Incomplete Atrioventricular Septal Defect With Isolated Atrial Component Incomplete Atrioventricular Canal Defect With Isolated Atrial Component Primum Atrial Septal Defect Partial Atrioventricular Canal Defect With Isolated Atrial Component Partial Atrioventricular Septal Defect, Ostium Primum Type Ostium Primum Atrial Septal Defect Partial Atrioventricular Canal Defect Partial Atrioventricular Septal Defect Atrial Septum Primum Defect Atrioventricular Canal Defect With Isolated Ventricular Component Atrioventricular Canal Defect With Isolated Ventricular Communication Atrioventricular Septal Defect With Isolated Ventricular Component Atrioventricular Septal Defect With Atrial Shunting And Restrictive Ventricular Shunting Intermediate Atrioventricular Canal Defect With Atrial And Ventricular Components And Separate Atrioventricular Valve Transitional Atrioventricular Septal Defect With Atrial And Ventricular Components And Separate Atrioventricular Valves Atrioventricular Canal Defect Associated With A Restrictive Ventricular Septal Defect Intermediate Atrioventricular Canal Defect Intermediate Atrioventricular Septal Defect With Atrial And Ventricular Components And Separate Atrioventricular Valvar Orifices Intermediate Atrioventricular Septal Defect Transitional Atrioventricular Canal Defect Transitional Atrioventricular Septal Defect Complete Atrioventricular Canal With Atrial And Ventricular Components Complete Atrioventricular Canal Defect Complete Atrioventricular Septal Defect
Physical Disorder	Physical Illness
Myocardial Infarction	Heart Attack Myocardial Infarction, Susceptibility To Myocardial Infarction 1 Myocardial Infarction, Protection Against Myocardial Infarction, Decreased Susceptibility To Myocardial Infarction, Decreased Myocardial Infarct MCI1 Premature Myocardial Infarction Myocardial Infarction, Susceptibility To, Type 1
Patent Ductus Arteriosus 1	Patent Ductus Arteriosus PDA1 Pda Ductus Arteriosus, Patent Patent Ductus Arteriosus, Susceptibility To Patent Ductus Botalli Patency Of The Ductus Arteriosus Patent Ductus Arteriosus Familial Ductus Arteriosus Patent Patent Ductus Arteriosus - Persisting Type
Centronuclear Myopathy	Myopathy, Centronuclear Myotubular Myopathy Cnm Myopathy, Myotubular Congenital Structural Myopathy
Lynch Syndrome I	Lynch Syndrome 1 Colorectal Cancer, Hereditary Nonpolyposis, Type 1 HNPCC1 Fcc1 Lynch Syndrome Ii Colon Cancer, Familial Nonpolyposis, Type 1 Coca1 Familial Nonpolyposis Colon Cancer Type 1 Hereditary Nonpolyposis Colorectal Cancer Type 1 Hereditary Non-Polyposis Colorectal Cancer 1 Hereditary Non-Polyposis Colorectal Cancer 3 Hnpcc3 Lynch Cancer Family Syndrome Lynch Syndrome Lynch Syndrome Type I Lynch Syndrome Type Ii Cancer, Colorectal, Nonpolyposis, Hereditary, Type 1 Hereditary Nonpolyposis Colorectal Cancer Colorectal Cancer, Hereditary Nonpolyposis, Type 3 Hereditary Non-Polyposis Colon Cancer Type 2
Mitochondrial Dna Depletion Syndrome 12b
Long Qt Syndrome 1	Romano-Ward Syndrome LQT1 Ward-Romano Syndrome Rws Ventricular Fibrillation With Prolonged Qt Interval Wrs Long Qt Syndrome 1, Acquired, Susceptibility To Long Qt Syndrome 1, Acquired Romano-Ward Long Qt Syndrome Long Qt Syndrome Type 1 Long Qt Syndrome-1 Acquired Susceptibility To Long Qt Syndrome 1 Qt Syndrome, Long, Type 1
Cardiomyopathy, Dilated, 1e	Left Ventricular Noncompaction 9 Left Ventricular Noncompaction 5 Dilated Cardiomyopathy 1e Dilated Cardiomyopathy 1s CMD1E Cdcd2 Cardiomyopathy, Dilated, 1y CMD1Y Cardiomyopathy, Dilated, 1s CMD1S Dilated Cardiomyopathy 1y Dilated Cardiomyopathy With Conduction Defect 2 Dilated Cardiomyopathy With Conduction Disorder And Arrhythmia Cardiomyopathy, Dilated, With Conduction Disorder And Arrhythmia Cardiomyopathy, Dilated, With Conduction Defect 2 Cardiomyopathy Dilated With Conduction Defect Type 2 Cardiomyopathy, Dilated 1e Cardiomyopathy, Dilated 1s Cardiomyopathy, Dilated 1y Left Ventricular Non-Compaction 5 LVNC5 Left Ventricular Non-Compaction 9 LVNC9 Cardiomyopathy, Dilated, Type 1e Cardiomyopathy, Dilated, Type 1s Cardiomyopathy, Dilated, Type 1y
Brugada Syndrome	Sudden Unexpected Nocturnal Death Syndrome Sudden Unexplained Nocturnal Death Syndrome Bangungut Brugada Type Idiopathic Ventricular Fibrillation Pokkuri Death Syndrome Sunds Idiopathic Ventricular Fibrillation, Brugada Type Sudden Unexplained Death Dream Disease Right Bundle Branch Block, St Segment Elevation, And Sudden Death Syndrome Sudden Unexplained Death Syndrome Suds Sunds - [Sudden Unexplained Nocturnal Death Syndrome]
Familial Atrial Fibrillation	Atrial Fibrillation, Familial Atfb Atrial Fibrillation Autosomal Dominant Autosomal Dominant Atrial Fibrillation Auricular Fibrillation Atrial Fibrillation Atrial Fibrillation, Familial, 1
Arrhythmogenic Right Ventricular Cardiomyopathy	Arrhythmogenic Right Ventricular Dysplasia Arvc Arvd Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy Arvc Cardiomyopathy Arrhythmogenic Right Ventricular Cardiomyopathy-Dysplasia Arvd/C Right Ventricular Dysplasia, Arrhythmogenic Ventricular Dysplasia, Right, Arrhythmogenic Cardiomyopathy, Ventricular, Right, Arrhythmogenic Dysplasia, Arrhythmogenic Right Ventricular
Long Qt Syndrome	Romano-Ward Syndrome Long Q-T Syndrome Lqt Qt Syndrome, Long Congenital Long Qt Syndrome Familial Long Qt Syndrome
Orthostatic Intolerance	Mitral Valve Prolapse Neurocirculatory Asthenia Mitral Valve Prolapse Syndrome Irritable Heart Systolic Click-Murmur Syndrome Soldiers Heart Cardiovascular Malfunction Arising From Mental Factors Cardiovascular Neurosis Da Costa'S Syndrome Krishaber'S Disease Barlow'S Syndrome Floppy Mitral Valve Mitral Leaflet Syndrome Myxomatous Mitral Valve Prolapse Postural Orthostatic Tachycardia Syndrome Due To Net Deficiency Familial Orthostatic Tachycardia Due To Norepinephrine Transporter Deficiency Orthostatic Intolerance Due To Net Deficiency Pots Due To Net Deficiency OI Intolerance, Orthostatic Mitral Valve Prolapse, Familial, X-Linked Ballooning Mitral Valve Barlow Syndrome Flail Mitral Leaflet Myxomatous Mitral Valve Mitral Valve Prolapse-Click Syndrome Prolapsing Mitral Valve Leaflet Syndrome Billowing Mitral Valve Leaflet Posterior Mitral Leaflet Deformity Ballooning Posterior Leaflet Syndrome Blue Valve Syndrome Floppy Mitral Valve Syndrome Mitral Valvular Prolapse Systolic Click Syndrome
Autosomal Recessive Limb-Girdle Muscular Dystrophy	Muscular Dystrophy, Limb-Girdle, Autosomal Recessive
Limb-Girdle Muscular Dystrophy	Lgmd Limb Girdle Muscular Dystrophy Muscular Dystrophies, Limb-Girdle Erb'S Muscular Dystrophy Leyden-Mbius Muscular Dystrophy Limb-Girdle Syndrome Myopathic Limb-Girdle Syndrome Limb Girdle Muscular Dystrophy Limb-Girdle Dystrophy, Muscular, Limb-Girdle Lgmd - [Limb-Girdle Muscular Dystrophy] Limb Girdle Muscle Dystrophy Limb-Girdle Myopathy
Malignant Hyperthermia	Anesthesia Related Hyperthermia Malignant Hyperpyrexia Due To Anesthesia Hyperpyrexia, Malignant Hyperthermia, Malignant Malignant Hyperpyrexia Mhs Malignant Fever
Congenital Myasthenic Syndrome	Congenital Myasthenia Congenital Myasthenic Syndromes Cms Myasthenic Syndromes, Congenital Myasthenic Syndromes Congenital Myasthenic Syndrome, Congenital Congenital Myasthenic Syndrome Ib Congenital And Developmental Myasthenia Developmental Myasthenia
Neuromuscular Disease	Neuromuscular Diseases Neuromuscular Disorders Neuromuscular Disorder
Tetralogy Of Fallot	TOF Fallot Tetralogy Ventricular Septal Defect With Pulmonary Stenosis Or Atresia, Dextraposition Of Aorta, And Hypertrophy Of Right Ventricle Tetrad Of Fallot Fallot Tetrad Fallot Disease Fallot Complex Subpulmonic Stenosis, Ventricular Septal Defect, Overriding Aorta, And Right Ventricular Hypertrophy Interventricular Septal Defect With Dextroposition Of Aorta, Pulmonary Stenosis And Hypertrophy Of Right Ventricle Interventricular Septal Defect, In Tetralogy Of Fallot Ventricular Septal Defect With Obstructed Right Ventricular Outflow Tof - [Tetralogy Of Fallot] Pulmonary Atresia With Ventricular Septal Defect [Fallot Type] Pulmonary Atresia, Ventricular Septal Defect And Mapcas Pulmonary Atresia With Ventricular Septal Defect And Systemic-To-Pulmonary Collateral Arteries [Fallot Type]
Hypertension, Essential	Essential Hypertension Hypertension High Blood Pressure Hypertension, Essential, Susceptibility To Hypertensive Disease Primary Hypertension EHT Hypertension, Salt-Sensitive Essential, Susceptibility To Hyperpiesia Idiopathic Hypertension Hypertensive Disorder Hypertension, Essential, Susceptibility To, 3 Hypertension, Essential 3 Hypertension, Essential, Salt-Sensitive Hypertension, Essential, Susceptibility To, 6 Hypertension, Essential 6 Hypertension, Salt-Sensitive Essential Hypertension, Susceptibility To Hypertension, Essential, Susceptibility To, 4 Hypertension, Essential 4 Hypertension, Essential, Susceptibility To, 2 Hypertension, Essential 2 Hypertension, Essential, Susceptibility To, 1 Hypertension, Essential 1 Hypertension, Essential, Susceptibility To, 5 Hypertension, Essential 5 Htn Vascular Hypertensive Disorder Systemic Primary Arterial Hypertension Hbp - [High Blood Pressure] Systemic Arterial Hypertensive Disorder Elevated Blood Pressure Arterial Hypertension Nos Hypertension Nos Benign Hypertension Systemic Arterial Hypertension Systemic Hypertension Artery Htn Benign Htn Vascular Htn Vascular Hypertension Cholesterol Hypertension Cholesterol Htn Idiopathic Htn Malignant Hypertension Malignant Htn Raised Blood Pressure Cardiovascular Hypertension Primary Htn - [Hypertension] High Arterial Tension High Blood Pressure Disorder Ht - [Hypertension] Htn - [Hypertension] Hypertensive Vascular Disease Hypertensive Vascular Degeneration
Noonan Syndrome 1	Noonan Syndrome NS1 Male Turner Syndrome Female Pseudo-Turner Syndrome Turner Phenotype With Normal Karyotype Noonan Syndrome With Pigmented Villonodular Synovitis Turner'S Phenotype, Karyotype Normal Familial Turner Syndrome Noonan'S Syndrome Noonan-Ehmke Syndrome Ns Pseudo-Ullrich-Turner Syndrome Turner Syndrome In Female With X Chromosome Turner-Like Syndrome Ullrich-Noonan Syndrome Noonan-Like/Multiple Giant Cell Lesion Syndrome Noonan Syndrome-Like Disorder With Multiple Giant Cell Lesions Pterygium Colli Syndrome Noonan Syndrome, Type 1 Turner Syndrome, Male
Aortic Aneurysm, Familial Thoracic 1	Thoracic Aortic Aneurysm Annuloaortic Ectasia Familial Thoracic Aortic Aneurysm And Aortic Dissection Familial Aortic Dissection Familial Taad Familial Thoracic Aortic Aneurysm Congenital Aneurysm Of Ascending Aorta Familial Aortic Aneurysm Familial Thoracic Aortic Aneurysm And Dissection Aortic Aneurysm, Thoracic AAT1 Faa1 Aortic Dissection, Familial Aortic Aneurysm, Familial Thoracic Aneurysm, Thoracic Aortic Faa Ftaad Taa Taad Cystic Medial Necrosis Of Aorta Familial Non-Syndromic Thoracic Aortic Aneurysm And Aortic Dissection Aortic Aneurysm Thoracic Familial Aortic Aneurysms Aneurysm, Aortic, Thoracic, Familial, Type 1 Aneurysm Of Thoracic Aorta Intrathoracic Aneurysm Thoracic Aorta Aneurysm Thoracic Aortic Aneurysm Without Rupture Thoracic Aneurysm Thorax Arterial Aneurysm Thoracic Artery Aneurysm Thoracic Arterial Aneurysm Thorax Aneurysm Thorax Aortic Aneurysm Dissection Of Thoracic Aorta
Chromosome 1p36 Deletion Syndrome	1p36 Deletion Syndrome Deletion 1p36 Monosomy 1p36 Subtelomeric 1p36 Deletion Monosomy 1p36 Syndrome Distal Monosomy 1p36 Del(1)(P36) Deletion 1pter Monosomy 1pter
Williams-Beuren Syndrome	Williams Syndrome WBS Wms Deletion 7q11.23 Monosomy 7q11.23 Chromosome 7q11.23 Deletion Syndrome, 1.5- To 1.8-Mb Fanconi Schlesinger Syndrome Beuren Syndrome Elfin Facies Syndrome Elfin Facies With Hypercalcemia Hypercalcemia-Supravalvar Aortic Stenosis Ws

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (3)

製品番号	製品名	製品効果	純度	Rare Diseases
HY-RS08904	MYH6 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS21384	Myh6 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS27903	Myh6 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

生物種	Symbol	由来	ID
Macaca mulatta	MYH6	VGNC	VGNC:75101
Mus musculus	MYH6	MGD	MGI:97255
Rattus norvegicus	MYH6	RGD	RGD:62029
Bos taurus	MYH6	VGNC	VGNC:55126
Others	MYH6	NCBI