Entrez gene ID | | 8936 |
Official gene symbol | | WASF1 |
Full name | | WAS protein family, member 1 |
Aliases | | ,FLJ31482,KIAA0269,SCAR1,WAVE,WAVE1, |
Gene summary | | The protein encoded by this gene, a member of the Wiskott-Aldrich syndrome protein (WASP)-family, plays a critical role downstream of Rac, a Rho-family small GTPase, in regulating the actin cytoskeleton required for membrane ruffling. It has been shown to associate with an actin nucleation core Arp2/3 complex while enhancing actin polymerization in vitro. Wiskott-Aldrich syndrome is a disease of the immune system, likely due to defects in regulation of actin cytoskeleton. Multiple alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq] |
Location | | Chromosome: 6 Locus: 6q21-q22 |
Gene position | | 110501207 - 110421022 Map Viewer |
Gene orientation | | minus |
Gene size | | 80186 bp |
Gene sequence |
| |
OMIM ID | | 605035 |
|