Primary Identifier | MGI:97846 | Organism | mouse, laboratory |
Chromosome | 15 | NCBI Gene Number | 19354 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.3.0) Enables GTPase activity and protein kinase regulator activity. Involved in several processes, including positive regulation of lamellipodium assembly; regulation of leukocyte chemotaxis; and regulation of mast cell degranulation. Acts upstream of or within several processes, including cell projection assembly; erythrocyte enucleation; and positive regulation of mast cell proliferation. Located in cytoplasm; membrane; and nuclear envelope. Is expressed in heart; maxilla; palatal shelf; and secondary palate. Used to study immunodeficiency 73b with defective neutrophil chemotaxis and lymphopenia. Human ortholog(s) of this gene implicated in immunodeficiency 73a with defective neutrophil chemotaxis and leukocytosis; immunodeficiency 73b with defective neutrophil chemotaxis and lymphopenia; and immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemia. Orthologous to human RAC2 (Rac family small GTPase 2). PHENOTYPE: Homozygotes for a targeted null mutation exhibit peripheral blood lymphocytosis, reductions in peritoneal B-1a lymphocytes, marginal zone lymphocytes, and IgM-secreting plasma cells, decreased levels of serum IgM and IgA, and abnormal T cell migration. [provided by MGI curators] |