Preferred Label : ACTA1 wt Allele;
NCIt synonyms : ACTA; SHPM; Actin, Alpha, Skeletal Muscle 1 Gene; CFTD; Nemaline Myopathy Type 3 Gene; CFTDM; NEM1; NEM2; NEM3; Actin Alpha 1, Skeletal Muscle wt Allele; CFTD1; MPFD; ASMA;
NCIt definition : Human ACTA1 wild-type allele is located in the vicinity of 1q42.13 and is approximately
4 kb in length. This allele, which encodes actin, alpha skeletal muscle protein, is
involved in sarcomere formation and contractile activity. Mutation of the gene is
associated with scapulohumeroperoneal myopathy, nemaline myopathy 3, congenital myopathy
with excess of thin myofilaments, congenital myopathy with cores, and congenital myopathy
with fiber-type disproportion 1.;
NCI Metathesaurus CUI : CL1905464;
GenBank Accession Number : J00068;
Origin ID : C191895;
UMLS CUI : C5781207;
OMIM relation
- Semantic type(s)
- gene_found_in_organism
- gene_is_element_in_pathway
- gene_plays_role_in_process
