Primary Identifier | MGI:105059 | Organism | mouse, laboratory |
Chromosome | X | NCBI Gene Number | 22376 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables identical protein binding activity. Acts upstream of or within several processes, including actin filament polymerization; cellular response to type II interferon; and endosomal transport. Located in cell-cell junction; phagocytic vesicle; and vesicle membrane. Is expressed in brain; heart; liver; and spleen. Used to study IgA glomerulonephritis and Wiskott-Aldrich syndrome. Human ortholog(s) of this gene implicated in Wiskott-Aldrich syndrome; X-linked severe congenital neutropenia; and thrombocytopenia. Orthologous to human WAS (WASP actin nucleation promoting factor). PHENOTYPE: Homozygous mutant females and hemizygous mutant males exhibit reduced numbers of peripheral blood lymphocytes and platelets, but increased numbers of neutrophils. [provided by MGI curators] |