Primary Identifier | MGI:1203729 | Organism | mouse, laboratory |
Chromosome | 7 | NCBI Gene Number | 18704 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables 1-phosphatidylinositol-3-kinase activity. Acts upstream of or within several processes, including autophagosome organization; negative regulation of zinc ion transmembrane transport; and phosphatidylinositol-3-phosphate biosynthetic process. Predicted to be located in several cellular components, including clathrin-coated vesicle; nucleoplasm; and trans-Golgi network. Predicted to be active in cytoplasm and plasma membrane. Is expressed in brain. Orthologous to human PIK3C2A (phosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 alpha). PHENOTYPE: Mice homozygous for a gene trap allele show chronic renal failure and a range of renal lesions that precede immune involvement. Mice heterozygous for a kinase-inactivating allele show defects in platelet formation, platelet membrane morphology and dynamics, and an enrichment of barbell proplatelets. [provided by MGI curators] |