Wiskott-Aldrich syndrome protein
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Wiskott-Aldrich syndrome
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| Identifiers | |
| Symbol(s) | WAS IMD2, THC |
| 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 dependent upon Cdc42 and PIP2 for activation. Once activated it can bind to the Arp2/3 complex and serve as a nucleation point for actin organization. It is part of the WASp family which also includes 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).
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