MYL5 - myosin light chain 5 Gene

Homo sapiens

Also known as MYLC2

Gene ID: 4636 | Gene type: protein coding

About MYL5

Cytogenetic location: 4p16.3 Genomic coordinates (GRCh38): 4:674,542-682,028 (from NCBI)

This gene has 9 transcripts (splice variants), 107 orthologues and 7 paralogues. Ubiquitous expression in fat (RPKM 6.7), duodenum (RPKM 6.7) and 25 other tissues.

Summary

This gene encodes one of the Myosin light chains, a component of the hexameric ATPase cellular motor protein Myosin. Myosin is composed of two heavy chains, two nonphosphorylatable alkali LIGHT chains, and two phosphorylatable regulatory LIGHT chains. This gene product, one of the regulatory LIGHT chains, is expressed in fetal muscle and in adult retina, cerebellum, and basal ganglia. [provided by RefSeq, Jul 2008]

MYL5 Products(11)

mRNA	Protein	Name
NM_001363650.2	NP_001350579.1	myosin light chain 5 isoform 2
NM_001395441.1	NP_001382370.1	myosin light chain 5 isoform 1
NM_001395442.1	NP_001382371.1	myosin light chain 5 isoform 1
NM_001395443.1	NP_001382372.1	myosin light chain 5 isoform 1
NM_001395444.1	NP_001382373.1	myosin light chain 5 isoform 2
NM_001395445.1	NP_001382374.1	myosin light chain 5 isoform 2
NM_001395446.1	NP_001382375.1	myosin light chain 5 isoform 2
NM_001395447.1	NP_001382376.1	myosin light chain 5 isoform 2
NM_001395448.1	NP_001382377.1	myosin light chain 5 isoform 2
NM_001395449.1	NP_001382378.1	myosin light chain 5 isoform 2
NM_002477.2	NP_002468.1	myosin light chain 5 isoform 1

MYL5 Protein Structure

EF-hand_6

0
100
173 a.a.

Protein Preferred Names

Protein Names

myosin light chain 5

myosin regulatory light chain 5

Related Diseases

Diseases

Alias

Myopathy, Centronuclear, 2

Myopathy, Centronuclear, Autosomal Recessive	Autosomal Recessive Centronuclear Myopathy
CNM2	Centronuclear Myopathy 2
Ar-Cnm	Myotubular Myopathy, Autosomal Recessive
Autosomal Recessive Myotubular Myopathy	Centronuclear Myopathy Autosomal Recessive
Myopathy, Centronuclear, Type 2

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

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

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