Symbol: Name: ID: |
ACTA1 actin, alpha 1, skeletal muscle GFS:2632 |
Gene name: | ACTA1 |
Chromosome: | 1q42.13 |
Previous Symbols: | ACTA |
Previous Names: | |
Aliases: | |
Name Aliases: | |
Locus Type: | gene with protein product |
Mouse Genome Database ID: | MGI:87902 | Rat Genome Database ID: | RGD:2025 |
HGNC ID: | HGNC:129 | RefSeq IDs: | NM_001100 |
Entrez Gene ID: | Ensembl Gene ID: | ENSG00000143632 | |
VEGA IDs: | OTTHUMG00000038006 | UniProt ID: | P68133 |
UCSC ID: | uc001htm.2 | OMIM ID: | 102610 |
Pubmed: | PMID10072583 PMID 6865942 | ||
CCDS IDs: | CCDSCCDS1578.1 |
Actin, alpha skeletal muscle is a protein that in humans is encoded by the ACTA1 gene.
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 nemaline myopathy type 3, 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. [provided by RefSeq]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications.
Function: Actins are highly conserved proteins that are involved in various types of cell motility and are ubiquitously expressed in all eukaryotic cells.
Products for ACTA1 gene
Catalog | Product Name | Application | Company |
GFS:E02632 | actin, alpha 1, skeletal muscle; ELISA kit | ELISA | n/a |
GFS:A02632 | actin, alpha 1, skeletal muscle; Anti | ANTIBODIES | n/a |
GFS:P02632 | actin, alpha 1, skeletal muscle; Protien | Protien | n/a |