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Wiskott-Aldrich syndrome protein (Homo sapiens)
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Identifier: 25635962
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Connection Element 
Reference informationCommunity Swiss-Prot gene product has molecular function small GTPase regulatory/interacting protein activity gene product has molecular function identical protein binding has function Effector protein for Rho-type GTPases, providing a link with the Arp2/3 complex that regulates the structure and dynamics of the actin cytoskeleton. Important for efficient actin polymerization. Possible regulator of lymphocyte and platelet function. interacts with with Self (accepted by Swiss-Prot); 
Reference informationinteracts with with CDC42 (accepted by Swiss-Prot); Reference informationinteracts with with HCK (accepted by Swiss-Prot); Reference informationinteracts with with Cdc42 (accepted by Swiss-Prot); Reference informationinteracts with with WIPF1 (accepted by Swiss-Prot); Reference information - Localization and spatial information
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Connection Element Reference informationCommunity Swiss-Prot NLM mapped to Wiskott-Aldrich Syndrome Protein Reference informationgene product plays role in biological process Immune response gene product plays role in biological process blood coagulation factor activity gene product plays role in biological process defense response gene product plays role in biological process actin polymerization and/or depolymerization gene product plays role in biological process protein complex location assembly gene product plays role in biological process epidermis development gene product malfunction associated with disease Defects in WAS are the cause of Wiskott-Aldrich syndrome (WAS) [MIM:301000]; also known as eczema-thrombocytopenia-immunodeficiency syndrome. WAS is an X-linked recessive immunodeficiency characterized by eczema, thrombocytopenia, recurrent infections, and bloody diarrhea. Death usually occurs before age 10. gene product malfunction associated with disease Defects in WAS are the cause of isolated X-linked thrombocytopenia (XLT) [MIM:313900]. XLT is clinically mild with small platelets and subclinical leukocyte abnormalities. gene product malfunction associated with disease Defects in WAS are a cause of X-linked severe congenital neutropenia (XLN) [MIM:300299]. XLN is an X-linked immunodeficiency syndrome characterized by recurrent major bacterial infections, severe congenital neutropenia, and monocytopenia. - Reference information
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