The ACTC1 gene homepage
| General information |
| Gene symbol |
ACTC1 |
| Gene name |
actin, alpha, cardiac muscle 1 |
| Chromosome |
15 |
| Chromosomal band |
q14 |
| Imprinted |
Unknown |
| Genomic reference |
NG_007553.1 |
| Transcript reference |
NM_005159.4 |
| Associated with diseases |
WD |
| Citation reference(s) |
Pan M et al, 2011
Zhang T et al, 2010 |
| Refseq URL |
Coding DNA reference sequence |
| Curators (0) |
- |
| Total number of public variants reported |
27 |
| Unique public DNA variants reported |
21 |
| Individuals with public variants |
0 |
| Hidden variants |
- |
| Notes |
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]
Also known as: ACTC; ASD5; CMD1R; CMH11; LVNC4 |
| Date created |
April 14, 2013 |
| Date last updated |
April 08, 2019 |
| Version |
ACTC1:190408 |
Active transcripts
| Copyright & disclaimer |
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