Entrez gene ID | | 59 |
Official gene symbol | | ACTA2 |
Full name | | actin, alpha 2, smooth muscle, aorta |
Aliases | | ,AAT6,ACTSA, |
Gene summary | | The protein 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. Defects in this gene cause aortic aneurysm familial thoracic type 6. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq] |
Location | | Chromosome: 10 Locus: 10q23.3 |
Gene position | | 90751147 - 90694831 Map Viewer |
Gene orientation | | minus |
Gene size | | 56317 bp |
Gene sequence |
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OMIM ID | | 102620 |
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