WAS Mouse Monoclonal Antibody [E10-4B]

Function

The Wiskott-Aldrich syndrome (WAS) is a disorder that results from a monogenic defect that has been mapped to the short arm of the X chromosome. WAS is characterized by thrombocytopenia, eczema, defects in cell-mediated and humoral immunity and a propensity for lymphoproliferative disease. The gene that is mutated in the syndrome encodes a proline-rich protein of unknown function designated WAS protein (WASP). A clue to WASP function came from the observation that T cells from affected males had an irregular cellular morphology and a disarrayed cytoskeleton suggesting the involvement of WASP in cytoskeletal organization. Close examination of the WASP sequence revealed a putative Cdc42/Rac interacting domain, homologous with those found in PAK65 and ACK. Subsequent investigation has shown WASP to be a true downstream effector of Cdc42.

Background References

1. Reicher B et al. Ubiquitylation-dependent negative regulation of WASp is essential for actin cytoskeleton dynamics. Mol Cell Biol 32(15):3153-63 (2012).

2. Blundell MP et al. The Wiskott-Aldrich syndrome: The actin cytoskeleton and immune cell function. Dis Markers 29(3-4):157-75 (2010).

Subcellular Location

Cytoplasm, cytoskeleton

UNIPROT

SwissProt: P42768 Human

Synonyms