ACTC1

actin, alpha, cardiac muscle 1

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

From NCBI Gene:

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 UniProt:

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

Covered on Genetics Home Reference:

From NCBI Gene:

  • Familial hypertrophic cardiomyopathy 11
  • Dilated cardiomyopathy 1R
  • Atrial septal defect 5

From UniProt:

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. [MIM:612794]

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. [MIM:612098]

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. [MIM:613424]

Cytogenetic Location: 15q14, which is the long (q) arm of chromosome 15 at position 14

Molecular Location: base pairs 34,788,096 to 34,795,726 on chromosome 15 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 15q14, which is the long (q) arm of chromosome 15 at position 14
  • ACTC
  • ASD5
  • CMD1R
  • CMH11
  • LVNC4