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ACTC1

ACTC1

The information on this page was automatically extracted from online scientific databases.

What is the official name of the ACTC1 gene?

The official name of this gene is “actin, alpha, cardiac muscle 1.”

ACTC1 is the gene's official symbol. The ACTC1 gene is also known by other names, listed below.

Read more about gene names and symbols on the About page.

What is the normal function of the ACTC1 gene?

From NCBI GeneThis link leads to a site outside Genetics Home Reference.:

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]

From UniProtThis link leads to a site outside Genetics Home Reference.:

Actins are highly conserved proteins that are involved in various types of cell motility and are ubiquitously expressed in all eukaryotic cells.

How are changes in the ACTC1 gene related to health conditions?

Genetics Home Reference provides information about these conditions associated with changes in the ACTC1 gene:
UniProtThis link leads to a site outside Genetics Home Reference. provides the following information about the ACTC1 gene's known or predicted involvement in human disease.

Cardiomyopathy, dilated 1R (CMD1R): A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death.[1]This link leads to a site outside Genetics Home Reference. The disease is caused by mutations affecting the gene represented in this entry.

Cardiomyopathy, familial hypertrophic 11 (CMH11): A hereditary heart disorder characterized by ventricular hypertrophy, which is usually asymmetric and often involves the interventricular septum. The symptoms include dyspnea, syncope, collapse, palpitations, and chest pain. They can be readily provoked by exercise. The disorder has inter- and intrafamilial variability ranging from benign to malignant forms with high risk of cardiac failure and sudden cardiac death.[2]This link leads to a site outside Genetics Home Reference. The disease is caused by mutations affecting the gene represented in this entry.

Atrial septal defect 5 (ASD5): A congenital heart malformation characterized by incomplete closure of the wall between the atria resulting in blood flow from the left to the right atria.[3]This link leads to a site outside Genetics Home Reference. The disease is caused by mutations affecting the gene represented in this entry.

NCBI GeneThis link leads to a site outside Genetics Home Reference. lists the following diseases or traits (phenotypes) known or believed to be associated with changes in the ACTC1 gene.
  • Atrial septal defect 5[3]This link leads to a site outside Genetics Home Reference.
  • Dilated cardiomyopathy 1R[1]This link leads to a site outside Genetics Home Reference.
  • Familial hypertrophic cardiomyopathy 11[2]This link leads to a site outside Genetics Home Reference.
UniProt and NCBI Gene cite these articles in OMIM, a catalog designed for genetics professionals and researchers that provides detailed information about genetic conditions and genes.
 Article
Number
Main Topic
[1]
[2]
[3]

Where is the ACTC1 gene located?

Cytogenetic Location: 15q14

Molecular Location on chromosome 15: base pairs 34,788,095 to 34,795,725

The ACTC1 gene is located on the long (q) arm of chromosome 15 at position 14.

The ACTC1 gene is located on the long (q) arm of chromosome 15 at position 14.

More precisely, the ACTC1 gene is located from base pair 34,788,095 to base pair 34,795,725 on chromosome 15.

See How do geneticists indicate the location of a gene? in the Handbook.

Where can I find additional information about ACTC1?

You and your healthcare professional may find the following resources about ACTC1 helpful.

You may also be interested in these resources, which are designed for genetics professionals and researchers.

What other names do people use for the ACTC1 gene or gene products?

  • ACTC
  • ASD5
  • CMD1R
  • CMH11
  • LVNC4

Where can I find general information about genes?

The Handbook provides basic information about genetics in clear language.

These links provide additional genetics resources that may be useful.

What glossary definitions help with understanding ACTC1?

actin ; arrhythmia ; atrial ; benign ; cardiac ; cardiomyopathy ; cell ; congenital ; dilated ; dilation ; dyspnea ; expressed ; familial ; gene ; heart failure ; hereditary ; hypertrophic ; hypertrophy ; idiopathic ; intrafamilial variability ; isoforms ; malformation ; palpitations ; protein ; septal defect ; septum ; syncope

You may find definitions for these and many other terms in the Genetics Home Reference Glossary.

See also Understanding Medical Terminology.

 

The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? in the Handbook.

 
Published: October 20, 2014