Primary Identifier | MGI:1934031 | Organism | mouse, laboratory |
Chromosome | 19 | NCBI Gene Number | 84095 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable 1-phosphatidylinositol 4-kinase activity; AP-3 adaptor complex binding activity; and ATP binding activity. Predicted to be involved in several processes, including basophil degranulation; endosome organization; and phosphatidylinositol phosphate biosynthetic process. Located in several cellular components, including dendrite; neuronal cell body; and presynaptic membrane. Is active in glutamatergic synapse and presynaptic active zone. Is expressed in several structures, including alimentary system; integumental system; nervous system; respiratory system; and sensory organ. Orthologous to human PI4K2A (phosphatidylinositol 4-kinase type 2 alpha). PHENOTYPE: Mice homozygous for a gene trap allele develop a progressive neurologic disease typified by urinary incontinence, tremor, limb weakness, weight loss, cerebellar gliosis, Purkinje cell loss, degeneration of spinal cord axons and premature death. Mutant males are sterile while females are subfertile. [provided by MGI curators] |