MYH6

MYH6
Identifiers
AliasesMYH6, ASD3, CMD1EE, CMH14, MYHC, MYHCA, SSS3, alpha-MHC, myosin, heavy chain 6, cardiac muscle, alpha, myosin heavy chain 6
External IDsOMIM: 160710; MGI: 97255; HomoloGene: 124414; GeneCards: MYH6; OMA:MYH6 - orthologs
Orthologs
SpeciesHumanMouse
Entrez

4624

17888

Ensembl

ENSG00000197616

ENSMUSG00000040752

UniProt

P13533

Q02566

RefSeq (mRNA)

NM_002471

NM_001164171
NM_010856

RefSeq (protein)

NP_002462

NP_001157643
NP_034986

Location (UCSC)Chr 14: 23.38 – 23.41 MbChr 14: 55.18 – 55.2 Mb
PubMed search
Wikidata
View/Edit HumanView/Edit Mouse

Myosin heavy chain, α isoform (MHC-α) is a protein that in humans is encoded by the MYH6 gene. This isoform is distinct from the ventricular/slow myosin heavy chain isoform, MYH7, referred to as MHC-β. MHC-α isoform is expressed predominantly in human cardiac atria, exhibiting only minor expression in human cardiac ventricles. It is the major protein comprising the cardiac muscle thick filament, and functions in cardiac muscle contraction. Mutations in MYH6 have been associated with late-onset hypertrophic cardiomyopathy, atrial septal defects and sick sinus syndrome.