ACTC1

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Actin, alpha, cardiac muscle 1

PDB rendering based on 1atn.
Identifiers
Symbols ACTC1; ACTC; ASD5; CMD1R; CMH11; LVNC4
External IDs OMIM102540 MGI87905 HomoloGene68446 GeneCards: ACTC1 Gene
RNA expression pattern
PBB GE ACTC1 205132 at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez 70 11464
Ensembl ENSG00000159251 ENSMUSG00000068614
UniProt P68032 Q3TG92
RefSeq (mRNA) NM_005159 NM_009608.3
RefSeq (protein) NP_005150 NP_033738.1
Location (UCSC) Chr 15:
35.08 – 35.09 Mb
Chr 2:
113.87 – 113.88 Mb
PubMed search [1] [2]

Actin, alpha cardiac muscle 1 is a protein that in humans is encoded by the ACTC1 gene.[1][2]

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 composed 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).[2]

References

  1. ^ Kramer PL, Luty JA, Litt M (Aug 1992). "Regional localization of the gene for cardiac muscle actin (ACTC) on chromosome 15q". Genomics 13 (3): 904–5. doi:10.1016/0888-7543(92)90185-U. PMID 1639426. 
  2. ^ a b "Entrez Gene: ACTC1 actin, alpha, cardiac muscle 1". http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=70. 

Further reading

External links




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