actin, alpha cardiac muscle 1; alpha-cardiac actin (ACTC1, ACTC)

Function

• alpha actin with role in cardiac muscle contraction

Structure

belongs to the actin family

Compartment

cytoplasm, cytoskeleton

Pathology

• defects in ACTC1 are the cause of
  • dilated cardiomyopathy type 1R
  • familial hypertrophic cardiomyopathy type 11
  • atrial septal defect type 5

More general terms

• alpha actin

Database

• Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=70
• Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:70; -.
• OMIM: https://mirror.omim.org/entry/102540
• OMIM: https://mirror.omim.org/entry/612098
• OMIM: https://mirror.omim.org/entry/612794
• OMIM: https://mirror.omim.org/entry/613424
• UniProt: http://www.uniprot.org/uniprot/P68032.html