a member of the Wiskott-Aldrich syndrome (WAS) family of proteins. A cytoplasmic protein expressed exclusively in hematopoietic cells. Transduces signals from surface receptors to the actin cytoskeleton. Associates with the small GTPase, Cdc42, known to regulate formation of actin filaments, and the cytoskeletal organizing complex, Arp2/3. Mutated in Wiskott-Aldrich syndrome, a rare, inherited, X-linked, recessive disease characterized by immune dysregulation and microthrombocytopenia. Note: This description may include information from UniProtKB.
Protein type: Motility/polarity/chemotaxis; Adaptor/scaffold
Chromosomal Location of Human Ortholog: Xp11.4-p11.21
SS: The number of records in which this modification site was determined using site-specific methods. SS methods include amino acid sequencing, site-directed mutagenesis, modification site-specific antibodies, specific MS strategies, etc.