WASF1, Official Symbol WASF1provided by HGNC Official Full Name WASP family member 1provided by HGNC Primary source HGNC:HGNC:12732 See related Ensembl:ENSG00000112290 MIM:605035; AllianceGenome:HGNC:12732 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as WAVE; SCAR1; WAVE1; NEDALVS 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, Jul 2008] Expression Biased expression in brain (RPKM 38.3), testis (RPKM 35.2) and 8 other tissues See more Orthologs mouse all