Primary Identifier | MGI:1335106 | Organism | mouse, laboratory |
Chromosome | 1 | NCBI Gene Number | 18711 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables phosphatidylinositol kinase activity; protein serine/threonine kinase activity; and zinc ion binding activity. Involved in several processes, including neutrophil chemotaxis; phosphatidylinositol metabolic process; and vesicle organization. Acts upstream of or within myelin assembly. Located in several cellular components, including cell-cell junction; perinuclear region of cytoplasm; and vesicle membrane. Is expressed in several structures, including brain; genitourinary system; integumental system; limb; and skeleton. Used to study Crohn's disease. Human ortholog(s) of this gene implicated in Fleck corneal dystrophy. Orthologous to human PIKFYVE (phosphoinositide kinase, FYVE-type zinc finger containing). PHENOTYPE: Mice homozygous for a null allele die prior to implantation with reduced numbers of inner cell mass and trophectoderm cells and blastocoele abnormalities. Mice homozygous for a second null allele show embryonic lethality between somite formation and embryo turning with abnormal visceral endoderm. [provided by MGI curators] |