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Gene Symbol ACTC1
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).
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