Gene: WASF1

Alternate names for this Gene: NEDALVS|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.

Gene is located in Chromosome: 6

Location in Chromosome : 6q21

Description of this Gene: WASP family member 1

Type of Gene: protein-coding

rs1562159088 in WASF1 gene and Poor school performance PMID 29961568 2018 De Novo Truncating Mutations in WASF1 Cause Intellectual Disability with Seizures.