| Primary Identifier | MGI:1298224 | Organism | mouse, laboratory |
| Chromosome | 10 | NCBI Gene Number | 18717 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.1.0) Enables 1-phosphatidylinositol-4-phosphate 5-kinase activity. Involved in regulation of postsynaptic neurotransmitter receptor internalization and regulation of synaptic vesicle endocytosis. Acts upstream of or within axonogenesis; phosphatidylinositol biosynthetic process; and platelet aggregation. Located in cytosol. Is active in glutamatergic synapse and postsynaptic density. Is expressed in several structures, including alimentary system; central nervous system; genitourinary system; peripheral nervous system ganglion; and sensory organ. Human ortholog(s) of this gene implicated in lethal congenital contracture syndrome 3. Orthologous to human PIP5K1C (phosphatidylinositol-4-phosphate 5-kinase type 1 gamma). PHENOTYPE: Mutations in this locus cause variable phenotypes. One allele shows embryonic lethality, abnormal cardiovascular and neuronal development and impaired integrity of the megakaryocyte membrane cytoskeleton. Another allele exhibits neonatal lethality, synaptic transmission and plasticity defects. [provided by MGI curators] |
Features --> Cross References
Canonical gene --> CDSs in specific strains.
Canonical gene --> Exons in specific strains
Canonical gene --> Strain-specific IDs, biotypes, and locations
Canonical gene --> Transcripts in specific strains.
Features --> Overlapping features
