ACTC1 - actin alpha cardiac muscle 1 Gene

Also Known as ACTC; ASD5; CMD1R; CMH11; LVNC4

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 70

About ACTC1

Cytogenetic location: 15q14 Genomic coordinates (GRCh38): 15:34,790,230-34,795,549 (from NCBI)

This gene has 6 transcripts (splice variants), 206 orthologues, 26 paralogues and is associated with 8 phenotypes. Restricted expression toward heart (RPKM 1532.4).

Summary

Actins are highly conserved proteins that are involved in various types of cell motility. Polymerization of globular actin (G-actin) leads to a structural filament (F-actin) in the form of a two-stranded helix. Each actin can bind to four Others. The protein encoded by this gene belongs to the actin family which is comprised of three main groups of actin isoforms, alpha, beta, and gamma. The alpha actins are found in muscle tissues and are a major constituent of the contractile apparatus. Defects in this gene have been associated with idiopathic dilated cardiomyopathy (IDC) and familial hypertrophic cardiomyopathy (FHC). [provided by RefSeq, Jul 2008]

ACTC1 Products (5)

mRNA	Protein	Name
NM_001406482.1	NP_001393411.1	actin, alpha cardiac muscle 1 isoform 1
NM_001406483.1	NP_001393412.1	actin, alpha cardiac muscle 1 isoform 1
NM_001406484.1	NP_001393413.1	actin, alpha cardiac muscle 1 isoform 2
NM_001406485.1	NP_001393414.1	actin, alpha cardiac muscle 1 isoform 3
NM_005159.5	NP_005150.1	actin, alpha cardiac muscle 1 isoform 1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Verweise	Source
enables ATP binding	IDA IDA: Inferred from direct assay	16611632	GOA
enables microfilament motor activity	IDA IDA: Inferred from direct assay	16611632	GOA
enables myosin binding	IDA IDA: Inferred from direct assay	19799913	GOA
enables myosin binding	IPI IPI: Inferred from physical interaction	16611632	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	30021884	GOA

Biological Process GO Annotation	Evidence	Verweise	Source
involved in actin filament-based movement	IDA IDA: Inferred from direct assay	16611632	GOA
involved in actin-myosin filament sliding	IMP IMP: Inferred from mutant phenotype	19799913	GOA
involved in heart contraction	IMP IMP: Inferred from mutant phenotype	9563954	GOA

Cellular Component GO Annotation	Evidence	Verweise	Source
located in actin filament	IDA IDA: Inferred from direct assay	16611632	GOA
located in cytoplasm	IDA IDA: Inferred from direct assay	20962418	GOA
located in sarcomere	IDA IDA: Inferred from direct assay	16288873	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

ACTC1 Protein Structure

Actin

0
100
200
300
377 a.a.

Protein Preferred Names	Protein Names
actin, alpha cardiac muscle 1

ACTC1 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Verweise
Intra	ACTC1	P68032	CFL1	Homo sapiens	P23528	Crosslink	30021884

Cross: Cross-species interaction Intra: Intraspecies interaction

ACTC1 Antibodies

Art. -Nr.	Produktname	Anwendung	Reactivity
HY-P85828	Actin Muscle Specific Antibody (YA5520)	IHC-P, WB, ICC/IF, ELISA	Human, Mouse, Rat, Monkey, Bovin, Pig, Chick

Related Diseases

Diseases	Alias
Atrial Septal Defect 5	ASD5 Atrial Heart Septal Defect 5 Septal Defect, Atrial, Type 5
Cardiomyopathy, Familial Hypertrophic, 11	Hypertrophic Cardiomyopathy 11 CMH11 Cardiomyopathy, Hypertrophic, 11 Cardiomyopathy Familial Hypertrophic 11 Cardiomyopathy, Familial Hypertrophic 11 Cardiomyopathy, Hypertrophic, Familial, Type 11
Cardiomyopathy, Dilated, 1r	Left Ventricular Noncompaction 4 CMD1R Dilated Cardiomyopathy 1r Cardiomyopathy, Dilated 1r Cardiomyopathy, Dilated, Type 1r
Familial Isolated Dilated Cardiomyopathy	Familial Or Idiopathic Dilated Cardiomyopathy
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
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
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
Myoepithelioma	Benign Myoepithelioma Myoepithelial Adenoma Myoepithelial Neoplasm Malignant Myoepithelioma
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
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
Glomus Tumor	Glomus Neoplasm Glomus Tumour
Leiomyosarcoma	Leiomyosarcomas
Fasciitis
Leiomyoma	Leiomyomatous Neoplasm Leiomyomatous Tumor Leiomyomas Fibroid Tumor Uterine Fibroids
Fibroma
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
Angiomyolipoma	Angiomyolipoma Of Kidney
Dermatofibrosarcoma Protuberans	DFSP Dermatofibrosarcoma Giant Cell Fibroblastoma Metastatic Dermatofibrosarcoma Protuberans Familial Dermatofibrosarcoma Protuberans Darier-Ferrand Tumor Darier-Hoffmann Tumor
Fibrous Histiocytoma	Benign Fibrous Histiocytoma Histiocytoma, Benign Fibrous Fibroxanthoma Histiocytoma Fibrous
Pseudosarcomatous Fibromatosis	Nodular Fasciitis Pseudosarcomatous Fasciitis Fasciitis - Nodular Fasciitis Nodular
Angiolipoma
Malignant Fibrous Histiocytoma	Undifferentiated Pleomorphic Sarcoma Ups Histiocytoma, Malignant Fibrous Fibroxanthosarcoma Mfh Malignant Fibrohistiocytic Tumors Histiocytoma, Fibrous, Malignant
Hemangiopericytoma, Malignant	Hemangiopericytoma Haemangiopericytic Meningioma Malignant Hemangiopericytoma Solitary Fibrous Tumor
Smooth Muscle Tumor
Lymphangiectasis	Lymphangiectasia
Pyogenic Granuloma	Lobular Capillary Hemangioma Granuloma Pyogenic Granuloma Pyogenicum Granuloma Telangiectaticum Of Skin Pyogenic Granuloma Of Skin Lobular Capillary Haemangioma Of Skin
Spindle Cell Sarcoma	Sarcoma Sarcoma Spindle Cell Sarcoma, Spindle Cell Sarcoma - Category
Fibromatosis
Pleomorphic Adenoma	Mixed Tumor Of The Salivary Gland Adenoma Pleomorphic Adenoma, Pleomorphic Mixed Salivary Gland Tumor Mixed Tumor, Not Otherwise Specified
Epithelioid Leiomyosarcoma	Leiomyosarcoma Epithelioid Leiomyosarcoma, Epithelioid
Gastrointestinal Stromal Tumor	GIST Gastrointestinal Stromal Tumors Gastrointestinal Stromal Sarcoma Gastrointestinal Stromal Tumor, Familial Gant Gastrointestinal Stromal Tumour Stromal Tumor Of Gastrointestinal Tract Stromal Tumour Of Gastrointestinal Tract Gastrointestinal Stromal Neoplasm Paraganglioma And Gastric Stromal Sarcoma Plexosarcoma
Cutaneous Fibrous Histiocytoma	Dermatofibroma Fibrohistiocytic Tumor Benign Cutaneous Fibrous Histiocytoma Fibrous Histiocytoma Of Skin Fibrous Xanthoma Of Skin Pleomorphic Fibroma Sclerosing Angioma Sclerosing Angioma Of Skin Fibrous Histiocytoma
Carcinosarcoma	Mixed Tumor, Mullerian Malignant Mixed Mesodermal Tumor Malignant Mixed Mullerian Tumor Mmmt Mixed Tumor, Mesodermal Mesodermal Mixed Tumor Mixed Mesodermal Tumor Mullerian Mixed Tumor Mixed Mullerian Tumor Malignant Mixed Müllerian Tumor Mixed Müllerian Tumor Mixed Tumor Mullerian Mixed Tumor, Not Otherwise Specified
Teratoma	Teratomas
Infantile Myofibromatosis	Lipofibromatosis Myofibromatosis
Malignant Peripheral Nerve Sheath Tumor	Mpnst Malignant Neurilemmoma Neurofibrosarcoma Malignant Neurofibroma Malignant Schwannoma Neurogenic Sarcoma Schwannoma, Malignant Malignant Neoplasm Of The Peripheral Nerve Sheath Malignant Peripheral Nerve Sheath Tumors
Perineurioma	Soft Tissue Perineurioma
Uterus Leiomyosarcoma	Leiomyosarcoma Of Uterus Leiomyosarcoma Of Corpus Uteri Leiomyosarcoma Of The Corpus Uteri Uterine Leiomyosarcoma
Fibrosarcoma	Neoplasms, Fibrous Tissue Fibrocytic Tumor Fibrosarcoma Of Soft Tissue Fibrous Tissue Neoplasm
Hemangioma	Hemangiomas
Dextrocardia	Heart Predominantly In Right Hemithorax Heart In Right Chest Right-Sided Heart Congenital Dextrocardia Of Heart Transposition Of Heart
Abcd Syndrome	ABCDS Albinism, Black Lock, Cell Migration Disorder Of The Neurocytes Of The Gut, And Deafness Albinism, Black Lock, Cell Migration Disorder Of The Neurocytes Of The Gut And Deafness
Endometrial Stromal Sarcoma	Ess Endometrial Stromal Sarcoma, High Grade Undifferentiated Endometrial Sarcoma Stromal Sarcoma Of The Corpus Uteri Sarcoma Endometrial Stromal Sarcoma, Endometrial Stromal Undifferentiated Stromal Sarcoma
Rhabdomyosarcoma
Adenofibroma
Neurilemmoma	Schwannoma Benign Schwannoma Neurilemoma Peripheral Fibroblastoma Psammomatous Schwannoma Neurolemmoma Schwannomas
Desmoid Tumor	Aggressive Fibromatosis Desmoid Type Fibromatosis Familial Infiltrative Fibromatosis Desmoid Disorder, Hereditary Fif Fibromatosis, Familial Infiltrative Deep Fibromatosis Desmoid Fibromatosis Hereditary Desmoid Disease Musculoaponeurotic Fibromatosis Desmoid-Type Fibromatosis Fibromatosis, Aggressive Desmoid Disease, Hereditary Musculo-Aponeurotic Fibromatosis
Rhabdoid Cancer	Rhabdoid Tumor Malignant Rhabdoid Tumor Malignant Rhabdoid Tumour Rhabdoid Sarcoma Rhabdoid Tumor Predisposition Syndrome 1 Rhabdoid Tumor Predisposition Syndrome 2 Atypical Teratoid Rhabdoid Tumor Brain Tumor, Posterior Fossa, Of Infancy, Familial Atypical Teratoid/Rhabdoid Tumor
Myoma	Muscle Benign Neoplasm Myomatous Neoplasm Neoplasms, Muscle Tissue Benign Neoplasm Of The Muscle Muscle Neoplasm Muscle Tissue Neoplasm Myomatous Tumor Neoplasm Of Muscle Muscle Neoplasms Myomas
Sarcoma	Connective And Soft Tissue Neoplasm Tumor Of Soft Tissue And Skeleton Sarcomas Sarcoma - Category
Adenoid Cystic Carcinoma	Adenocystic Carcinoma Cribriform Carcinoma Cylindroma Carcinoma Adenoid Cystic Carcinoma, Adenoid Cystic Adenoid Cystic Carcinoma Of Salivary Gland Eccrine Dermal Cylindroma Carcinoma, Cribriform
Lymphangioma	Lymphatic Malformation Lymphatic Malformations Benign Lymphangioma Congenital Lymphangioma Lymphangiomas
Mucoepidermoid Carcinoma	Mec Salivary Gland Mucoepidermoid Carcinoma C3772 Carcinoma Mucoepidermoid Carcinoma, Mucoepidermoid
Chondroma	Central Chondroma Enchondroma
Breast Myoepithelial Carcinoma
Papilloma	Papillomatosis
Embryonal Rhabdomyosarcoma	Rhabdomyosarcoma, Embryonal Rhabdomyosarcoma Embryonal Botryoid Rhabdomyosarcoma Erms Spindle Cell Rhabdomyosarcomas
Dedifferentiated Liposarcoma	Ddls Liposarcoma Dedifferentiated Liposarcoma, Dedifferentiated
Pulmonary Blastoma	Blastoma Of Lung Pneumoblastoma
Nephroma	Benign Nephroma
Pneumothorax	Pneumothorax Nos Air Leak Nos Pleural Air Leak Nos
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
Somatostatinoma	Somatostatin Cell Neoplasm Somatostatin Cell Tumour Ampullary Somatostatinoma Carcinoid Somatostatinoma Malignant Islet Cell Tumor Somatomedin-Secreting Carcinoid Somatostatin-Secreting Pancreatic Neoplasm Pancreatic Somatostatinoma Pancreatic Endocrine Carcinoma
Angiosarcoma	Hemangiosarcoma
Leiomyomatosis
Cystadenocarcinoma
Benign Giant Cell Tumor	Giant Cell Tumors
Mesenchymal Chondrosarcoma	Chondrosarcoma, Mesenchymal Chondrosarcoma Mesenchymal
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
Restrictive Cardiomyopathy	Familial Restrictive Cardiomyopathy Cardiomyopathy, Restrictive Cardiomyopathy, Constrictive Primary Restrictive Cardiomyopathy Rcm Cardiomyopathy Restrictive
Endomyocardial Fibrosis	Becker'S Disease Obscure African Cardiomyopathy African Endomyocardial Fibrosis Endomyocardial Sclerosis EMF Becker Muscular Dystrophy
Intrinsic Cardiomyopathy
Polycystic Liver Disease 1 With Or Without Kidney Cysts	Polycystic Liver Disease 1 PCLD1 Cyst Liver Disease, Polycystic, Type 1 Polycystic Liver Disease
Baraitser-Winter Syndrome	Fryns-Aftimos Syndrome Brws Cerebro-Frontofacial Syndrome, Type 3 Iris Coloboma With Ptosis, Hypertelorism, And Mental Retardation Iris Coloboma With Ptosis Hypertelorism And Intellectual Disability Trigonocephaly Ptosis Coloboma Trigonocephaly Ptosis Intellectual Disability Cerebrofrontofacial Syndrome Type 3
Endocardial Fibroelastosis	Endomyocardial Fibroelastosis Elastomyofibrosis EFE Efe - [Endocardial Fibroelastosis] Primary Endocardial Fibroelastosis Fibroelastosis Cordis Fetal Endocarditis Fibroelastosis Congenital Endocardial Fibroelastosis Congenital Valvular Endocarditis
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
Heart Septal Defect	Septal Defect Heart Septal Defects Cardiac Septal Defects Congenital Septal Defect Of Heart
Achalasia	Cardiospasm Achalasia Of Cardia Esophageal Achalasia Hypertensive Lower Esophageal Sphincter Idiopathic Achalasia Achalasia Cardia Idiopathic Achalasia Of Esophagus Primary Achalasia Achalasia Of Esophagus Lack Of Reflex Relaxation Of Lower Oesophageal Sphincter Aperistalsis Of The Oesophagus Achalasia Of Oesophagus Oesophageal Achalasia Achalasia Nos Cardia Spasm Cardia Achalasia Oesophageal Cardiospasm Oesophagus Achalasia Reflex Cardiospasm
Gliosarcoma	Glioblastoma With Sarcomatous Component Sarcomatous Glioblastoma
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
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
Myopathy	Muscular Diseases Myopathies
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 1	Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome Berdon Syndrome MMIHS Megacystis Microcolon Intestinal Hypoperistalsis Syndrome Megacystis, Microcolon, Hypoperistalsis Syndrome Visceral Myopathy Mmih Syndrome Megacystis-Microcolon-Intestinal Hypoperistalsis-Hydronephrosis Syndrome MMIHS1 Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome, Mmih Mmhs
Microphthalmia	Microphthalmos Isolated Anophthalmia-Microphthalmia Syndrome Isolated Microphthalmia-Anophthalmia-Coloboma Simple Microphthalmos Clinical Anophthalmia Isolated Anophthalmia - Microphthalmia Isolated Pure Microphthalmia Mac Spectrum Microphthalmia-Anophthalmia-Coloboma Spectrum Primitive Anophthalmia Globe Of Eye Small Small Eyeball Hypoplasia Of Eye Isolated Nanophthalmos Rudimentary Eye Dysplasia Of Eye
Medulloblastoma	MDB Cpnet Localized Primitive Neuroectodermal Tumor Classic Medulloblastoma Medulloblastoma Predisposition Syndrome Medulloblastoma, Somatic Brain Medulloblastoma Cns Pnet Infratentorial Primitive Neuroectodermal Tumor Neuroectodermal Tumors, Primitive Medulloblastomas Desmoplastic Medulloblastoma Medulloblastoma, With Extensive Nodularity Medulloblastoma Of Unspecified Site Medullomyoblastoma Of Unspecified Site
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
Rasopathy	Ras/Mitogen-Activated Protein Kinase Syndrome
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
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
Interstitial Lung Disease 2	Idiopathic Pulmonary Fibrosis Ipf Fibrocystic Pulmonary Dysplasia Pulmonary Fibrosis, Idiopathic Pulmonary Fibrosis, Idiopathic, Susceptibility To Cryptogenic Fibrosing Alveolitis ILD2 Idiopathic Pulmonary Fibrosis, Familial Fibrosing Alveolitis, Cryptogenic Uip Fibrosing Alveolitis Interstitial Pneumonitis, Usual Familial Idiopathic Pulmonary Fibrosis Idiopathic Fibrosing Alveolitis, Chronic Form Usual Interstitial Pneumonia Fibrosing Alveolitis Cryptogenic Hamman-Rich Disease Idiopathic Pulmonary Fibrosis Familial Interstitial Pneumonitis Usual Fibrosis Idiopathic Pulmonary Fibrosis, Pulmonary, Idiopathic Hamman-Rich Syndrome Chronic Idiopathic Pulmonary Fibrosis Acute Interstitial Pneumonia Interstitial Pulmonary Fibrosis Ipf - [Idiopathic Pulmonary Fibrosis] Idiopathic Lung Fibrosis Fibrosing Lung Disease Pulmonary Fibrosis Nos Fibrosing Pneumonitis
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
Basal Cell Carcinoma	Basal Cell Cancer Basal Cell Neoplasm Basal Cell Carcinoma Of Skin Malignant Basal Cell Tumor Basal Cell Tumor Epithelioma Basal Cell Malignant Basal Cell Neoplasm Rodent Ulcer Carcinoma Basal Cell Neoplasms, Basal Cell Basal Cell Carcinomas Experimental Organism Basal Cell Carcinoma Nodulo-Ulcerative Basal Cell Carcinoma Basalioma Basal Cell Epithelioma Of Skin Bcc - [Basal Cell Carcinoma] Of Skin Rodent Ulcer Of Skin Rodent Ulcer Of Unspecified Site Basal Cell Epithelioma Of Unspecified Site
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]
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]
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

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 (1)

Art. -Nr.	Produktname	Wirkung	Reinheit	Rare Diseases
HY-RS00217	ACTC1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Felis catus	ACTC1	VGNC	VGNC:59543
Bos taurus	ACTC1	VGNC	VGNC:25574
Mus musculus	ACTC1	MGD	MGI:87905
Canis familiaris	ACTC1	VGNC	VGNC:37540
Rattus norvegicus	ACTC1	RGD	RGD:2026
Macaca mulatta	ACTC1	VGNC	VGNC:69395
Others	ACTC1	NCBI