ACTC1 wt Allele

**Semantic type:** Gene or Genome

**Definition:** Human ACTC1 wild-type allele is located in the vicinity of 15q14 and is approximately 5 kb in length. This allele, which encodes actin, alpha cardiac muscle 1 protein, plays a role in the structure of microfilaments. Mutation of the gene is associated with atrial septal defect 5, dilated cardiomyopathy 1R, hypertrophic cardiomyopathy 11 and left ventricular noncompaction 4.

**Synonyms:** - ACTC - ASD5 - Actin Alpha Cardiac Muscle 1 wt Allele - Actin, Alpha Cardiac Muscle 1 Gene - Actin, Alpha, Cardiac Muscle Gene - CMD1R - CMH11 - LVNC4