ACTA1

Also known as ACTA, ASMA, CFTD, CFTD1, CFTDM, MPFD, NEM1, NEM2

protein-coding gene in the species Homo sapiens

Gene data

ACTA1

Name: actin alpha 1, skeletal muscle
Type: protein-coding
Position: 229,430,365–229,434,789 (−)
Aliases: ACTA, ASMA, CFTD, CFTD1, CFTDM, CMYO2A, CMYO2B, CMYO2C, CMYP2A, CMYP2B
Ensembl: ENSG00000143632
RefSeq RNA: NM_001100.4
RefSeq protein: NP_001091.1

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].