ACTC1

Also known as ACTC, ASD5, CMD1R, CMH11, LVNC4, actin, alpha, cardiac muscle 1, actin alpha cardiac muscle 1

ACTC1 encodes cardiac muscle alpha actin. This isoform differs from the alpha actin that is expressed in skeletal muscle, ACTA1. Alpha cardiac actin is the major protein of the thin filament in cardiac sarcomeres, which are responsible for muscle contraction and generation of force to support the pump function of the heart.

Gene data

ACTC1

Name: actin alpha cardiac muscle 1
Type: protein-coding
Position: 34,790,107–34,795,912 (−)
Aliases: ACTC, ASD5, CMD1R, CMH11, LVNC4
Ensembl: ENSG00000159251
RefSeq RNA: NM_001406482.1, NM_001406483.1, NM_001406484.1, NM_001406485.1, NM_005159.5
RefSeq protein: NP_001393411.1, NP_001393412.1, NP_001393413.1, NP_001393414.1, NP_005150.1

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].