Missing content? – Request curation!
Request curation for specific Genes, Variants, or PubMed publications.
Have questions, comments, or suggestions? - Let us know!
Email us at : firstname.lastname@example.org
|Synonyms||ACTC | ASD5 | CMD1R | CMH11 | LVNC4|
|Gene Description||ACTC1, actin alpha cardiac muscle 1, is the primary actin isoform in the adult heart and in early heart development (PMID: 20962418, PMID: 17947298). Germline mutations in ACTC1 have been reported in familial hypertrophic cardiomyopathy 11 (PMID: 27854360) and somatic mutations have been observed in large-scale cancer sequencing studies (PMID: 31508376, PMID: 29937994).|