Primary Identifier | MGI:1926063 | Organism | mouse, laboratory |
Chromosome | 15 | NCBI Gene Number | 105855 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable GTPase activator activity; TORC2 complex binding activity; and protein kinase activator activity. Involved in several processes, including lymphocyte homeostasis; negative regulation of cytokine production; and positive regulation of lymphocyte activation. Part of SCAR complex. Is expressed in several structures, including alimentary system; central nervous system; genitourinary system; immune system; and musculature. Human ortholog(s) of this gene implicated in immunodeficiency 72. Orthologous to human NCKAP1L (NCK associated protein 1 like). PHENOTYPE: Mice homozygous for an ENU-induced mutation exhibit anemia, lymphopenia, neutrophilia and tissue-specific pathology, defective neutrophil migration, phagocytosis and F-actin polymerization, abnormal B and T cell development, impaired T cell activation and adhesion, and enhanced IL-17 production. [provided by MGI curators] |