CAV3 - caveolin 3 Gene

Also Known as LQT9; MPDT; RMD2; VIP21; LGMD1C; VIP-21

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 859

About CAV3

Cytogenetic location: 3p25.3 Genomic coordinates (GRCh38): 3:8,733,802-8,746,758 (from NCBI)

This gene has 3 transcripts (splice variants), 227 orthologues, 2 paralogues and is associated with 10 phenotypes. Biased expression in heart (RPKM 7.8), esophagus (RPKM 2.8) and 1 other tissue.

Summary

This gene encodes a caveolin family member, which functions as a component of the caveolae plasma membranes found in most cell types. Caveolin proteins are proposed to be scaffolding proteins for organizing and concentrating certain caveolin-interacting molecules. Mutations identified in this gene lead to interference with protein oligomerization or intra-cellular routing, disrupting caveolae formation and resulting in Limb-Girdle muscular dystrophy type-1C (LGMD-1C), hyperCKemia or rippling muscle disease (RMD). Alternative splicing has been identified for this locus, with inclusion or exclusion of a differentially spliced intron. In addition, transcripts utilize multiple polyA sites and contain two potential translation initiation sites. [provided by RefSeq, Jul 2008]

CAV3 Products (2)

mRNA	Protein	Name
NM_001234.5	NP_001225.1	caveolin-3
NM_033337.3	NP_203123.1	caveolin-3

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Referencias	Source
enables calcium channel regulator activity	IDA IDA: Inferred from direct assay	21084288	GOA
enables connexin binding	IDA IDA: Inferred from direct assay	19544087	GOA
enables molecular adaptor activity	IPI IPI: Inferred from physical interaction	17060380	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	10988290	GOA
enables protein-containing complex binding	IDA IDA: Inferred from direct assay	10988290	GOA
enables sodium channel regulator activity	IDA IDA: Inferred from direct assay	17060380	GOA
enables sodium channel regulator activity	IMP IMP: Inferred from mutant phenotype	17275750	GOA
enables transmembrane transporter binding	IPI IPI: Inferred from physical interaction	17060380	GOA

Biological Process GO Annotation	Evidence	Referencias	Source
acts upstream of or within caveola assembly	IDA IDA: Inferred from direct assay	18936328	GOA
involved in negative regulation of MAPK cascade	IMP IMP: Inferred from mutant phenotype	12847114	GOA
acts upstream of or within negative regulation of calcium ion transport	IDA IDA: Inferred from direct assay	21084288	GOA
involved in negative regulation of cardiac muscle hypertrophy	IMP IMP: Inferred from mutant phenotype	12847114	GOA
involved in negative regulation of cell size	IMP IMP: Inferred from mutant phenotype	12847114	GOA
involved in negative regulation of sarcomere organization	IMP IMP: Inferred from mutant phenotype	12847114	GOA
involved in regulation of calcium ion import	IDA IDA: Inferred from direct assay	21084288	GOA
involved in regulation of cardiac muscle cell action potential involved in regulation of contraction	IMP IMP: Inferred from mutant phenotype	17060380	GOA
involved in regulation of cardiac muscle contraction	IMP IMP: Inferred from mutant phenotype	17275750	GOA
involved in regulation of heart contraction	IMP IMP: Inferred from mutant phenotype	17275750	GOA
involved in regulation of heart rate	IMP IMP: Inferred from mutant phenotype	17060380	GOA
involved in regulation of membrane depolarization during cardiac muscle cell action potential	IMP IMP: Inferred from mutant phenotype	17275750	GOA
involved in regulation of membrane potential	IDA IDA: Inferred from direct assay	21084288	GOA
acts upstream of or within regulation of nerve growth factor receptor activity	IMP IMP: Inferred from mutant phenotype	20472890	GOA
acts upstream of or within regulation of signal transduction by receptor internalization	IMP IMP: Inferred from mutant phenotype	20472890	GOA
involved in regulation of skeletal muscle contraction	IMP IMP: Inferred from mutant phenotype	17524427	GOA
involved in regulation of sodium ion transmembrane transport	IDA IDA: Inferred from direct assay	17060380	GOA
involved in regulation of ventricular cardiac muscle cell membrane depolarization	IDA IDA: Inferred from direct assay	17060380	GOA
involved in regulation of ventricular cardiac muscle cell membrane repolarization	IMP IMP: Inferred from mutant phenotype	17060380	GOA

Cellular Component GO Annotation	Evidence	Referencias	Source
part of dystrophin-associated glycoprotein complex	IDA IDA: Inferred from direct assay	10988290	GOA
located in endoplasmic reticulum	IDA IDA: Inferred from direct assay	22792322	GOA
located in plasma membrane	IDA IDA: Inferred from direct assay	17060380	GOA
located in sarcolemma	IDA IDA: Inferred from direct assay	12847114	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

CAV3 Protein Structure

Caveolin

0
100
151 a.a.

Protein Preferred Names	Protein Names
caveolin-3	M-caveolin

CAV3 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Referencias
Intra	CAV3	P56539	CAVIN1	Homo sapiens	Q6NZI2	Anti Tag CoIP	33961781
Intra	CAV3	P56539	CAVIN1	Homo sapiens	Q6NZI2	Anti Tag CoIP	28514442
Intra	CAV3	P56539	COL25A1	Homo sapiens	Q8NE08	Y2H Pooling	32814053
Intra	CAV3	P56539	COL25A1	Homo sapiens	Q8NE08	Validated Y2H	32814053
Intra	CAV3	P56539	COL25A1	Homo sapiens	Q8NE08	Y2H Array	32814053
Intra	CAV3	P56539	RBFA	Homo sapiens	Q8N0V3	Validated Y2H	32296183
Intra	CAV3	P56539	PBX3	Homo sapiens	Q96AL5	Validated Y2H	32296183

Cross: Cross-species interaction Intra: Intraspecies interaction

CAV3 Antibodies

Referencia número	Nombre del producto	Aplicación	Reactivity
HY-P83124	Caveolin 3 Antibody (YA2869)	WB, IP	Human, Mouse, Rat

Related Diseases

Diseases	Alias
Rippling Muscle Disease 2	Rippling Muscle Disease Rmd Lgmd1c RMD2 Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1c Muscular Dystrophy, Limb-Girdle, Type 1c Muscular Dystrophy, Limb-Girdle, Type 1c, Formerly Lgmd1c, Formerly Limb-Girdle Muscular Dystrophy Type 1c Limb-Girdle Muscular Dystrophy Due To Caveolin-3 Deficiency Muscular Dystrophy, Limb-Girdle, Type Ic Rippling Muscle Syndrome Limb-Girdle Muscular Dystrophy 1c Dystrophy, Muscular, Limb-Girdle, Type 1c Disease, Muscle, Rippling, Type 2 Rippling Muscle Disease 1
Myopathy, Distal, Tateyama Type	Distal Myopathy, Tateyama Type MPDT Cav3-Related Distal Myopathy
Long Qt Syndrome 9	LQT9 Long Qt Syndrome-9 Qt Syndrome, Long, Type 9
Creatine Phosphokinase, Elevated Serum	Hyperckemia, Idiopathic Cpk, Elevated Serum Hyperckmia HYPCK
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
Isolated Elevated Serum Creatine Phosphokinase Levels	Elevated Serum Cpk Idiopathic Hyperckemia Isolated Hyperckemia Elevated Serum Creatine Phosphokinase H-Ck Idiopathic Persistent Elevation Of Serum Creatine Kinase
Isolated Asymptomatic Elevation Of Creatine Phosphokinase	Idiopathic Asymptomatic Hyperckemia Isolated Asymptomatic Hyperckemia
Long Qt Syndrome	Romano-Ward Syndrome Long Q-T Syndrome Lqt Qt Syndrome, Long Congenital Long Qt Syndrome Familial Long Qt Syndrome
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
Sudden Infant Death Syndrome	SIDS Sudden Infant Death Syndrome, Susceptibility To Cot Death Crib Death Sudden Death Of Nonspecific Cause In Infancy Sudden Infant Death Death, Sudden, Syndrome, Infant
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
Miyoshi Muscular Dystrophy	Distal Myopathy Distal Muscular Dystrophy Miyoshi Myopathy Distal Myopathies Dystrophy, Muscular, Miyoshi Myopathy, Distal Distal Muscular Dystrophies
Muscular Dystrophy	Muscular Dystrophies Congenital Md Congenital Muscular Dystrophy Cmd Mdc Dystrophy, Muscular Gower'S Muscular Dystrophy Progressive Musclular Dystrophy Pseudohypertrophic Atrophy Pseudohypertrophic Muscle Paralysis Pseudohypertrophic Muscular Atrophy Pseudohypertrophic Muscular Dystrophy Pseudohypertrophic Paralysis Pseudomuscular Hypertrophy
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2	Lgmd2b Muscular Dystrophy, Limb-Girdle, Type 2b Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2e Beta-Sarcoglycanopathy Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2y Muscular Dystrophy, Limb-Girdle, Type 3 Lgmd3 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2s LGMDR2 Muscular Dystrophy, Limb-Girdle, Type 2s Limb-Girdle Muscular Dystrophy Type 2b Lgmd2e Limb-Girdle Muscular Dystrophy Due To Beta-Sarcoglycan Deficiency Muscular Dystrophy, Limb-Girdle, Type 2e Lgmd2s Autosomal Recessive Muscular Dystrophy Due To Lap1b Deficiency Autosomal Recessive Muscular Dystrophy Due To Torsin-1a-Interacting Protein 1 Deficiency Lgmd2y Muscular Dystrophy With Progressive Weakness, Distal Contractures And Rigid Spine Muscular Dystrophy, Limb-Girdle, Type 2y Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2b Dysferlin-Related Lgmd R2 Lgmd Due To Dysferlin Deficiency Lgmd Type 2b Limb-Girdle Muscular Dystrophy Due To Dysferlin Deficiency Limb-Girdle Muscular Dystrophy 2b Limb-Girdle Muscular Dystrophy, Type 2b Dystrophy, Muscular, Limb-Girdle, Autosomal Recessive, Type 2 Dystrophy, Muscular, Limb-Girdle, Type 2b Limb-Girdle Muscular Dystrophy, Type 2e
Limb-Girdle Muscular Dystrophy Type 1b	Lgmd1b Muscular Dystrophy, Proximal, Type 1b Limb-Girdle Muscular Dystrophy, Type 1b
Long Qt Syndrome 12	LQT12 Qt Syndrome, Long, Type 12
Myopathy	Muscular Diseases Myopathies
Long Qt Syndrome 10	LQT10 Atrial Fibrillation, Familial, 17 ATFB17 Long Qt Syndrome-10 Qt Syndrome, Long, Type 10
Muscular Atrophy	Muscle Wasting Amyotrophia Wasting - Muscle Skeletal Muscle Atrophy
Lipodystrophy, Congenital Generalized, Type 4	Congenital Generalized Lipodystrophy Type 4 CGL4 Berardinelli-Seip Congenital Lipodystrophy, Type 4, With Muscular Dystrophy Lipodystrophy, Berardinelli-Seip Congenital, Type 4, With Muscular Dystrophy Berardinelli-Seip Congenital Lipodystrophy Type 4 With Muscular Dystrophy Generalized Congenital Lipodystrophy With Myopathy Congenital Generalised Lipodystrophy Type 4 Generalised Congenital Lipodystrophy Type 4 Generalised Congenital Lipodystrophy With Myopathy Generalized Congenital Lipodystrophy Type 4 Gcl4 Congenital Generalized Lipodystrophy 4 Berardinelli-Seip Congenital Lipodystrophy Type 4
Cardiac Arrhythmia, Ankyrin-B-Related	Long Qt Syndrome 4 Ankyrin-B Syndrome LQT4 Ankyrin-B-Related Cardiac Arrhythmia Sick Sinus Syndrome With Bradycardia Arrhythmia, Cardiac, Ankyrin B-Related
Progressive Muscular Atrophy	Progressive Spinal Muscular Atrophy Pure Progressive Muscular Atrophy Pma Hereditary Spinal Muscle Atrophy Pma - [Progressive Muscular Atrophy] Progressive Muscle Atrophy Progressive Spinal Muscle Atrophy Duchenne-Aran Atrophy Duchenne-Aran Muscle Atrophy Hereditary Sma - [Spinal Muscle Atrophy]
Centronuclear Myopathy	Myopathy, Centronuclear Myotubular Myopathy Cnm Myopathy, Myotubular Congenital Structural Myopathy
Autosomal Dominant Limb-Girdle Muscular Dystrophy	Muscular Dystrophy, Limb-Girdle, Autosomal Dominant
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2	Muscular Dystrophy, Limb-Girdle, Type 1f Lgmd1f Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1f LGMDD2 Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 2 Muscular Dystrophy Limb-Girdle Type 1f Tnp03-Related Limb-Girdle Muscular Dystrophy D2 Lgmd Type 1f Limb-Girdle Muscular Dystrophy Type 1f Limb-Girdle Muscular Dystrophy 1f Dystrophy, Muscular, Limb-Girdle, Type 1f
Limb-Girdle Muscular Dystrophy Type 1a	Lgmd1a Lgmd1 Muscular Dystrophy, Proximal, Type 1a Limb-Girdle Muscular Dystrophy, Type 1a Dystrophy, Muscular, Limb-Girdle, Type 1a
Muscular Dystrophy, Limb-Girdle, Type 1h	Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1h LGMD1H Muscular Dystrophy Limb-Girdle Type 1h Dystrophy, Muscular, Limb-Girdle, Type 1h
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3	Lgmd1g Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1g LGMDD3 Muscular Dystrophy, Limb-Girdle, Type 1g Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 3 Limb-Girdle Muscular Dystrophy, Type 1g Muscular Dystrophy Limb-Girdle Type 1g Hnrnpdl-Related Limb-Girdle Muscular Dystrophy D3 Hnrnpdl-Related Lgmd D3 Lgmd Type 1g Limb-Girdle Muscular Dystrophy Type 1g Limb-Girdle Muscular Dystrophy 1g Dystrophy, Muscular, Limb-Girdle, Type 1g
Long Qt Syndrome 11	LQT11 Long Qt Syndrome-11 Qt Syndrome, Long, Type 11
Timothy Syndrome	Long Qt Syndrome With Syndactyly TS Lqt8 Long Qt Syndrome 8 Long Qt Syndrome Type 8 Long Qt Syndrome-Syndactyly Syndrome
Uruguay Faciocardiomusculoskeletal Syndrome	FCMSU Faciocardiomusculoskeletal Syndrome, Uruguay Type Fcms Musculoskeletal Diseases
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]
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2b	Lgmd2b Lgmd3 Limb-Girdle Muscular Dystrophy Due To Dysferlin Deficiency Limb-Girdle Muscular Dystrophy Type 3 Muscular Dystrophy, Limb-Girdle, Type 2b
Long Qt Syndrome 3	LQT3 Long Qt Syndrome Type 3 Long Qt Syndrome-3 Qt Syndrome, Long, Type 3
Long Qt Syndrome 6	LQT6 Long Qt Syndrome 3/6 Lqt3/6 Susceptibility To Acquired Long Qt Syndrome 6 Long Qt Syndrome-6 Long Qt Syndrome 6, Acquired, Susceptibility To Qt Syndrome, Long, Type 6 Long Qt Syndrome 3-6
Long Qt Syndrome 5	LQT5 Long Qt Syndrome 2/5 Lqt2/5 Susceptibility To Acquired Long Qt Syndrome 5 Long Qt Syndrome-5 Long Qt Syndrome 5, Acquired, Susceptibility To Qt Syndrome, Long, Type 5 Long Qt Syndrome 2-5
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1	Muscular Dystrophy, Limb-Girdle, Type 1e Lgmd1d Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1d LGMDD1 Lgmd1e Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1 Limb-Girdle Muscular Dystrophy Type 1d Muscular Dystrophy, Limb-Girdle, Type 1d Muscular Dystrophy, Limb-Girdle, Type 1d, Formerly Lgmd1d, Formerly Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1e Muscular Dystrophy Limb-Girdle Type 1d Muscular Dystrophy Limb-Girdle Type 1e Dnajb6-Related Limb-Girdle Muscular Dystrophy D1 Dnajb6-Related Lgmd D1 Lgmd Type 1d Limb-Girdle Muscular Dystrophy 1e Limb-Girdle Muscular Dystrophy-1d, Autosomal Dominant Dystrophy, Muscular, Limb-Girdle, Autosomal Dominant, Type 1 Dystrophy, Muscular, Limb-Girdle, Type 1e
Neuromuscular Disease	Neuromuscular Diseases Neuromuscular Disorders Neuromuscular Disorder
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2a	Leyden-Moebius Muscular Dystrophy Lgmd2a Limb-Girdle Muscular Dystrophy Due To Calpain Deficiency Muscular Dystrophy, Limb-Girdle, Type 2a Pelvofemoral Muscular Dystrophy Primary Calpainopathy
Long Qt Syndrome 13	LQT13 Qt Syndrome, Long, Type 13
Muscular Dystrophy, Duchenne Type	Duchenne Muscular Dystrophy DMD Muscular Dystrophy, Duchenne Muscular Dystrophy, Pseudohypertrophic Progressive, Duchenne Type Severe Dystrophinopathy, Duchenne Type Muscular Dystrophy Duchenne Dystrophy, Muscular, Duchenne Type Benign Duchenne Muscular Dystrophy Duchenne Motor Neuron Disease Duchenne Type Dystrophy Duchenne-Griesinger Disease
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2f	Delta-Sarcoglycanopathy Lgmd2f Limb-Girdle Muscular Dystrophy Due To Delta-Sarcoglycan Deficiency Limb-Girdle Muscular Dystrophy Type 2f
Long Qt Syndrome 2	LQT2 Long Qt Syndrome, Acquired, Reduced Susceptibility To Long Qt Syndrome 1/2 Long Qt Syndrome 2/3 Long Qt Syndrome 2/5 Long Qt Syndrome 2, Acquired, Susceptibility To Long Qt Syndrome, Acquired, Reduced Long Qt Syndrome Type 2 Long Qt Syndrome 2/9 Lqt1/2 Lqt2/3 Lqt2/5 Lqt2/9 Susceptibility To Acquired Long Qt Syndrome 2 Long Qt Syndrome-2 Qt Syndrome, Long, Type 2 Long Qt Syndrome 1-2 Long Qt Syndrome 2-3 Long Qt Syndrome 2-5 Long Qt Syndrome 9
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2x	Lgmd2x Muscular Dystrophy, Limb-Girdle, Type 2x
Andersen Cardiodysrhythmic Periodic Paralysis	Andersen Syndrome Andersen-Tawil Syndrome LQT7 Long Qt Syndrome 7 Ats Periodic Paralysis, Potassium-Sensitive Cardiodysrhythmic Type Long Qt Syndrome Type 7 Andersen Tawil Syndrome Potassium-Sensitive Cardiodysrhythmic Type Lqts Type 7 Long Qt Syndrome-7
Autosomal Recessive Limb-Girdle Muscular Dystrophy	Muscular Dystrophy, Limb-Girdle, Autosomal Recessive
Rhabdomyosarcoma
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2j	Lgmd2j Muscular Dystrophy, Limb-Girdle, Type 2j
Inner Ear Disease	Labyrinthine Dysfunction Diseases Of Inner Ear Labyrinthine Disease Abnormality Of The Inner Ear Labyrinth Diseases Labyrinthine Disorder Nonfunctioning Labyrinth Labyrinthine Loss Of Function Labyrinthine Syndrome Labyrinthine Disorder Nos
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2d	Alpha-Sarcoglycanopathy Dmda2 Duchenne-Like Autosomal Recessive Muscular Dystrophy Type 2 Lgmd2d Muscular Dystrophy, Limb-Girdle, Type 2d Primary Adhalinopathy
Glycogen Storage Disease Ii	Pompe Disease Glycogen Storage Disease Type Ii Acid Maltase Deficiency Gsd Ii Gaa Deficiency Alpha-1,4-Glucosidase Deficiency Glycogenosis Type Ii GSD2 Acid Alpha-Glucosidase Deficiency Amd Glycogen Storage Disease, Type Ii Pompe'S Disease Glycogen Storage Disease Type 2 Cardiomegalia Glycogenica Diffusa Acid Maltase Deficiency Disease Deficiency Of Alpha-Glucosidase Glycogenosis, Generalized, Cardiac Form Deficiency Of Glucoamylase Deficiency Of Maltase Generalized Glycogenosis Glycogenosis, Type 2 Lysosomal Alpha-1,4-Glucosidase Deficiency Glucosidase Acid-1,4-Alpha Deficiency Aglucosidase Alfa Deficiency Of Lysosomal Alpha-Glucosidase Glycogen Storage Disease Due To Acid Maltase Deficiency Alpha-1,4-Glucosidase Acid Deficiency Gsd Due To Acid Maltase Deficiency Gsd Type 2 Gsd Type Ii Glycogenosis Due To Acid Maltase Deficiency Glycogenosis Type 2 Glycogen Storage Disease 2 Cardiomegalia Glycogenica Glycogenosis Generalized Cardiac Form Glycogenosis Ii Gsd-Ii Storage Disease, Glycogen, Type Ii Generalized Glycogen Storage Disease Of Infants Cardiac Form Of Generalized Glycogenosis
Cardiomyopathy, Dilated, 3b	Dilated Cardiomyopathy 3b CMD3B X-Linked Dilated Cardiomyopathy Xlcm Dmd-Associated Dilated Cardiomyopathy Cardiomyopathy, Dilated, X-Linked Dmd-Related Dilated Cardiomyopathy Xldc Cardiomyopathy, Dilated, X-Linked 3b Cardiomyopathy, Dilated, Type 3b
Muscular Dystrophy, Becker Type	Becker Muscular Dystrophy BMD Benign Pseudohypertrophic Muscular Dystrophy Benign Congenital Myopathy Becker Dystrophinopathy Becker'S Muscular Dystrophy Muscular Dystrophy, Pseudohypertrophic Progressive, Becker Type Muscular Dystrophy Pseudohypertrophic Progressive, Becker Type Muscular Dystrophy Becker Dystrophy, Muscular, Becker Type Dystrophinopathy Becker Dystrophy Becker Type Dystrophy Bmd - [Becker Muscular Dystrophy]
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
Intrinsic Cardiomyopathy
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
Tibial Muscular Dystrophy	Tmd Udd Myopathy Distal Titinopathy Finnish Tibial Muscular Dystrophy Tardive Tibial Muscular Dystrophy Udd Type Distal Myopathy Udd Distal Myopathy Udd-Markesbery Muscular Dystrophy Distal Myopathy, Udd Type Distal Myopathies Tibial Muscular Dystrophy, Tardive
Muscle Tissue Disease
Jervell And Lange-Nielsen Syndrome 1	Jervell And Lange-Nielsen Syndrome Jervell-Lange Nielsen Syndrome Prolonged Qt Interval In Ekg And Sudden Death Cardioauditory Syndrome Of Jervell And Lange-Nielsen Surdo-Cardiac Syndrome JLNS1 Deafness, Congenital, And Functional Heart Disease Jlns Long Qt Interval-Deafness Syndrome Jervell And Lange-Nielson Syndrome Jervell Lange-Nielsen Syndrome Autosomal Recessive Long Qt Syndrome Cardio-Auditory-Syncope Syndrome Long Qt Interval-Hearing Loss Syndrome Congenital Deafness And Functional Heart Disease Long Qt Interval-Deafness
Hypokalemic Periodic Paralysis, Type 1	Hypokalemic Periodic Paralysis Hokpp Hypopp Westphall Disease HOKPP1 Familial Hypokalemic Periodic Paralysis Familial Periodic Paralysis Westphal Disease Hypokalemic Periodic Paralysis Type 1 Hypokalemic Familial Periodic Paralysis Periodic Hypokalemic Paralysis Periodic Paralysis I Hypokpp Primary Hypokalemic Periodic Paralysis Periodic Paralysis Hypokalemic 1 Paralysis, Hypokalemic, Periodic Paralysis, Hypokalemic, Periodic, Type 1
Childhood Absence Epilepsy	Pyknolepsy Petit Mal Epilepsy Absence Seizures Absence Seizure Petit Mal Seizure Absence Epilepsy, Childhood Pykno-Epilepsy Epilepsy, Absence Absence Epilepsy Pycnolepsy
Muscular Disease
Congenital Generalized Lipodystrophy	Berardinelli-Seip Congenital Lipodystrophy Berardinelli-Seip Syndrome Brunzell Syndrome Bscl Generalized Lipodystrophy Lipodystrophy, Congenital Generalized Seip Syndrome Total Lipodystrophy Cgl Lipoatrophic Diabetes Lipodystrophy, Generalized, Congenital Familial Generalized Lipodystrophy Congenital Generalized Lipodystrophy Type 2 Lipoatrophic Diabetes Mellitus Familial Partial Lipodystrophy, Type 2
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]
Malignant Hyperthermia	Anesthesia Related Hyperthermia Malignant Hyperpyrexia Due To Anesthesia Hyperpyrexia, Malignant Hyperthermia, Malignant Malignant Hyperpyrexia Mhs Malignant Fever
Episodic Ataxia	Isaacs Syndrome Neuromyotonia Isaacs' Syndrome Acquired Neuromyotonia Continuous Muscle Fiber Activity Syndrome Quantal Squander Syndrome Isaacs-Mertens Syndrome Ea Syndrome Episodic Ataxia Syndrome Isaac Syndrome Isaac'S-Merten'S Syndrome Isaac-Mertens Syndrome Peripheral Nerve Hyperexcitability Ea Peripheral Nerve Hyperexcitability Syndrome Ataxia, Episodic Isaacs Neuromyotonia Continuous Muscle Fibre Activity
Bethlem Myopathy 1	Bethlem Myopathy Myopathy, Benign Congenital, With Contractures Muscular Dystrophy, Benign Congenital BTHLM1 Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 5 Lgmdd5 Benign Congenital Muscular Dystrophy Benign Autosomal Dominant Myopathy Myopathy, Bethlem Myopathy, Bethlem, Type 1
Walker-Warburg Syndrome	Hard Syndrome Walker-Warburg Congenital Muscular Dystrophy Cerebroocular Dysplasia-Muscular Dystrophy Syndrome Cod-Md Syndrome Chemke Syndrome Hydrocephalus, Agyria And Retinal Dysplasia Cerebroocular Dysgenesis Cerebroocular Dysplasia Muscular Dystrophy Syndrome Hard +/- E Syndrome Pagon Syndrome Warburg Syndrome Hydrocephalus, Agyria, And Retinal Dysplasia Mddga Muscular Dystrophy-Dystroglycanopathy , Type A Muscular Dystrophy-Dystroglycanopathy [With Brain And Eye Anomalies], Type A Hydrocephalus-Agyria-Retinal Dysplasia Syndrome Wws Dystrophy, Muscular, Dystroglycanopathy, Type A
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
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
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

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

Approval
Clinical Phase
Pre-clinical Phase

Approval

Bioactive Molecules (3)

Referencia número	Nombre del producto	Pureza	Rare Diseases
HY-B0166	L-Ascorbic acid	99.97%	Unkown
HY-B0166A	L-Ascorbic acid sodium salt	99.97%	Unkown
HY-B0166R	L-Ascorbic acid (Standard)	99.97%	Unkown

Clinical Phase

Bioactive Molecules (3)

Referencia número	Nombre del producto	Efecto	Pureza	Phase
HY-B0166GL	L-Ascorbic acid (GMP Like)		99.88%	Phase 4
HY-B0166G	L-Ascorbic acid (GMP)		/	Phase 2
HY-115681	(2R/S)-6-PNG	Inhibitor	99.96%	Phase 1

Pre-clinical Phase

Bioactive Molecules (38)

Referencia número	Nombre del producto	Efecto	Pureza	Rare Diseases
HY-111828	TTA-A2	Antagonist	99.33%	Unkown
HY-B0166S	L-Ascorbic acid-13C6		99.90%	Unkown
HY-103309	ML218	Inhibitor	99.49%	Unkown
HY-132184	5,6-Epoxyeicosatrienoic acid	Inhibitor	99.9%	Unkown
HY-120597	SAK3	Activator	99.80%	Unkown
HY-B0166S6	L-Ascorbic acid-d2		99.90%	Unkown
HY-B0166S1	L-Ascorbic acid-13C		99.90%	Unkown
HY-P1441A	Mambalgin 1 TFA	Inhibitor	95.72%	Unkown
HY-B0166S8	L-Ascorbic acid-13C6-1		99.37%	Unkown
HY-112499S1	Menaquinone-7-13C6		96.0%	Unkown
HY-147638	MONIRO-1	Inhibitor	99.18%	Unkown
HY-50707	(Rac)-TTA-P2	Control	98.69%	Unkown
HY-B0166S3	L-Ascorbic acid-13C-2		95.0%	Unkown
HY-103309A	ML218 hydrochloride	Inhibitor	/	Unkown
HY-10035A	(R)-TTA-P2	Control	99.95%	Unkown
HY-103309S	ML218-d9	Inhibitor	/	Unkown
HY-118030	RQ-00311651	Antagonist	/	Unkown
HY-126336	HM12	Inhibitor	/	Unkown
HY-129841	Niguldipine monohydrochloride	Inhibitor	/	Unkown
HY-132184S	5,6-Epoxyeicosatrienoic acid-d11		/	Unkown
HY-147639	Cav 2.2/3.2 blocker 1	Inhibitor	/	Unkown
HY-147708	T-Type calcium channel inhibitor 2	Inhibitor	/	Unkown
HY-151450	Cav 3.2 inhibitor 1	Inhibitor	/	Unkown
HY-151451	Cav 3.2 inhibitor 2	Inhibitor	/	Unkown
HY-151452	Cav 3.2 inhibitor 3	Inhibitor	/	Unkown
HY-154832	Cav 3.2 inhibitor 4	Inhibitor	/	Unkown
HY-177955	α-Obscurine derivative-1	Inhibitor	/	Unkown
HY-B0166E	L-Ascorbic acid magnesium		/	Unkown
HY-B0166S2	L-Ascorbic acid-13C-1		99.90%	Unkown
HY-B0166S4	L-Ascorbic acid-13C-3		/	Unkown
HY-B0166S5	L-Ascorbic acid-13C-4		/	Unkown
HY-P5793	GTx1-15	Inhibitor	/	Unkown
HY-P5869	Kurtoxin		/	Unkown
HY-RS01988	CAV3 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-112499S	Menaquinone-7-d7		/	Unkown
HY-122201	NSC156529	Antagonist	/	Unkown
HY-156889	Cav 3.1 blocker 1	Antagonist	/	Unkown
HY-P3269	Calciseptine	Inhibitor	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Felis catus	CAV3	VGNC	VGNC:69368
Macaca mulatta	CAV3	VGNC	VGNC:70553
Mus musculus	CAV3	MGD	MGI:107570
Canis familiaris	CAV3	VGNC	VGNC:38753
Bos taurus	CAV3	VGNC	VGNC:26801
Rattus norvegicus	CAV3	RGD	RGD:2281
Others	CAV3	NCBI