Wiskott-Aldrich syndrome protein

From Wikipedia, the free encyclopedia

Wiskott-Aldrich syndrome
Identifiers
Symbol	WAS IMD2, THC
HUGO	12731
Entrez	7454
OMIM	300392
RefSeq	NM_000377
UniProt	P42768
Other data
Locus	Chr. X p11.4-p11.21

The Wiskott-Aldrich Syndrome Protein (WASp) is a 502-amino acid protein that is expressed in cells of the hematopoietic system. In the inactive state, WASp exists in an auto-inhibited conformation with sequences near its C-terminus binding to a region near its N-terminus. It's activation is dependent upon Cdc42 and PIP2 acting to disrupt this interaction causing the WASp protein to 'open'. This exposes a domain near the WASp C-Terminus that binds to and activates the Arp2/3 complex. Activated Arp2/3 nucleates new F-actin. WASp is the founding member of a gene family which also includes the broadly expressesd N-WASP (neuronal Wiskott-Aldrich Syndrome protein), and Scar.

[edit] Genetic Diseases Associated with WASp

WASp is a product of the WAS gene and mutations in the WAS gene can lead to Wiskott-Aldrich syndrome (an X-linked disease that mainly affects males with symptoms that include thrombocytopenia, eczema, recurrent infections, and small-sized platelets). Other, less inactivating mutations affecting the WAS gene cause X-linked thrombocytopeia, or XLT.