MYL3 - myosin light chain 3 Gene

Also Known as CMH8; VLC1; VLCl; MLC1V; MLC1SB; MLC-lV/sb

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 4634

About MYL3

Cytogenetic location: 3p21.31 Genomic coordinates (GRCh38): 3:46,857,872-46,863,444 (from NCBI)

This gene has 8 transcripts (splice variants), 316 orthologues, 4 paralogues and is associated with 3 phenotypes. Restricted expression toward heart (RPKM 677.8).

Summary

MYL3 encodes Myosin light chain 3, an alkali light chain also referred to in the literature as both the ventricular isoform and the slow skeletal muscle isoform. Mutations in MYL3 have been identified as a cause of mid-left ventricular chamber type hypertrophic cardiomyopathy. [provided by RefSeq, Jul 2008]

MYL3 Products (6)

mRNA Protein Name
NM_000258.3 NP_000249.1 myosin light chain 3 isoform 1
NM_001406937.1 NP_001393866.1 myosin light chain 3 isoform 1
NM_001406938.1 NP_001393867.1 myosin light chain 3 isoform 1
NM_001406939.1 NP_001393868.1 myosin light chain 3 isoform 1
NM_001406940.1 NP_001393869.1 myosin light chain 3 isoform 2
NM_001406941.1 NP_001393870.1 myosin light chain 3 isoform 3
Molecular Function GO Annotation Evidence References Source
enables actin monomer binding IDA
IDA: Inferred from direct assay
16675844 GOA
Biological Process GO Annotation Evidence References Source
involved in cardiac muscle contraction IMP
IMP: Inferred from mutant phenotype
16675844 GOA
involved in regulation of striated muscle contraction IMP
IMP: Inferred from mutant phenotype
16675844 GOA
involved in regulation of the force of heart contraction IMP
IMP: Inferred from mutant phenotype
16675844 GOA
involved in ventricular cardiac muscle tissue morphogenesis IMP
IMP: Inferred from mutant phenotype
8673105 GOA
Cellular Component GO Annotation Evidence References Source
located in A band IDA
IDA: Inferred from direct assay
16675844 GOA
located in I band IDA
IDA: Inferred from direct assay
16675844 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
Protein Preferred Names Protein Names

myosin light chain 3

  • CMLC1

MYL3 Antibodies

Cat. No. Product Name Application Reactivity
HY-P84015 MYL3 Antibody (YA3712) WB, IHC-P, ELISA Human
HY-P84015A MYL3 Antibody (YA3712)(PBS only) WB, IHC-P, ELISA Human
HY-P85290 MYL3 Antibody (YA4982) WB, IHC-P Human
HY-P85656 Myosin Heavy Chain Antibody (YA5348) ICC/IF Human, Mouse, Rat, FruitFly, Nematode

Related Diseases

Diseases Alias
Cardiomyopathy, Familial Hypertrophic, 8
  • Hypertrophic Cardiomyopathy 8

  • CMH8

  • Cardiomyopathy, Hypertrophic, Mid-Left Ventricular Chamber Type, 1

  • Cardiomyopathy, Hypertrophic, 8

  • Cardiomyopathy Hypertrophic Mid-Left Ventricular Chamber Type 1

  • Cardiomyopathy, Familial Hypertrophic 8

  • Familial Hypertrophic Cardiomyopathy With Mid-Left Ventricular Chamber Type 1

  • Mvc1

  • Cardiomyopathy, Hypertrophic, Familial, Type 8

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

Acute Myocardial Infarction
  • Cardiac Attack

  • Heart Attack

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

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

Restrictive Cardiomyopathy
  • Familial Restrictive Cardiomyopathy

  • Cardiomyopathy, Restrictive

  • Cardiomyopathy, Constrictive

  • Primary Restrictive Cardiomyopathy

  • Rcm

  • Cardiomyopathy Restrictive

Intrinsic 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

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

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

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

Familial Atrial Fibrillation
  • Atrial Fibrillation, Familial

  • Atfb

  • Atrial Fibrillation Autosomal Dominant

  • Autosomal Dominant Atrial Fibrillation

  • Auricular Fibrillation

  • Atrial Fibrillation

  • Atrial Fibrillation, Familial, 1

Rasopathy
  • Ras/Mitogen-Activated Protein Kinase Syndrome

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]

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

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]

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

Orthologs Information

Species Symbol Source ID
Rattus norvegicus MYL3 RGD RGD:3142
Bos taurus MYL3 VGNC VGNC:31801
Macaca mulatta MYL3 VGNC VGNC:75104
Canis familiaris MYL3 VGNC VGNC:43544
Mus musculus MYL3 MGD MGI:97268
Felis catus MYL3 VGNC VGNC:102647
Others MYL3 NCBI