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Wiskott-Aldrich syndrome protein
From Wikipedia, the free encyclopedia
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Wiskott-Aldrich syndrome
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| 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.
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.
- Mendelian Inheritance in Man (OMIM) 300392
- Mendelian Inheritance in Man (OMIM) 313900
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