| Entrez Gene ID |
70 |
| Official Gene Symbol |
ACTC1 (GeneCards) |
| Full name |
actin, alpha, cardiac muscle 1 |
| Location |
15q14 |
| Other ids |
Vega : OTTHUMG00000129675
MIM : 102540
HGNC : HGNC:143
Ensembl : ENSG00000159251
|
| Other names |
ACTC,
ASD5,
CMD1R,
CMH11,
LVNC4
|
| Summary |
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] |