ACTA1, Official Symbol ACTA1provided by HGNC Official Full Name actin alpha 1, skeletal muscleprovided by HGNC Primary source HGNC:HGNC:129 See related Ensembl:ENSG00000143632 MIM:102610; AllianceGenome:HGNC:129 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as ACTA; ASMA; CFTD; MPFD; NEM1; NEM2; NEM3; SHPM; CFTD1; CFTDM; CMYP2A; CMYP2B; CMYP2C Summary The product encoded by this gene belongs to the actin family of proteins, which are highly conserved proteins that play a role in cell motility, structure and integrity. Alpha, beta and gamma actin isoforms have been identified, with alpha actins being a major constituent of the contractile apparatus, while beta and gamma actins are involved in the regulation of cell motility. This actin is an alpha actin that is found in skeletal muscle. Mutations in this gene cause a variety of myopathies, including nemaline myopathy, congenital myopathy with excess of thin myofilaments, congenital myopathy with cores, and congenital myopathy with fiber-type disproportion, diseases that lead to muscle fiber defects with manifestations such as hypotonia. [provided by RefSeq, Sep 2019] Expression Biased expression in heart (RPKM 1670.9), esophagus (RPKM 297.6) and 1 other tissue See more Orthologs mouse all