U.S. flag

An official website of the United States government

GTR Home > Genes

ACTC1 actin alpha cardiac muscle 1

Gene ID: 70, updated on 11-Apr-2024
Gene type: protein coding
Also known as: ACTC; ASD5; CMD1R; CMH11; LVNC4


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]

Associated conditions

See all available tests in GTR for this gene

A genome-wide association study identifies a susceptibility locus for refractive errors and myopia at 15q14.
GeneReviews: Not available
A genome-wide search for loci interacting with known prostate cancer risk-associated genetic variants.
GeneReviews: Not available
Atrial septal defect 5
MedGen: C2748552OMIM: 612794GeneReviews: Not available
See labs
Dilated cardiomyopathy 1RSee labs
Hypertrophic cardiomyopathy 11See labs
Nine loci for ocular axial length identified through genome-wide association studies, including shared loci with refractive error.
GeneReviews: Not available
Primary dilated cardiomyopathySee labs

Copy number response

Copy number response

No evidence available (Last evaluated 2015-11-17)

ClinGen Genome Curation Page

Little evidence for dosage pathogenicity (Last evaluated 2015-11-17)

ClinGen Genome Curation PagePubMed

Genomic context

Chromosome: 15; NC_000015.10 (34790230..34795549, complement)
Total number of exons:


IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.