Primary Identifier | MGI:2448506 | Organism | mouse, laboratory |
Chromosome | 16 | NCBI Gene Number | 224020 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.3.0) Enables 1-phosphatidylinositol 4-kinase activity. Involved in phosphatidylinositol phosphate biosynthetic process. Predicted to be located in Golgi-associated vesicle membrane. Predicted to be active in cytoplasm and plasma membrane. Is expressed in several structures, including alimentary system; genitourinary system; nervous system; respiratory system; and sensory organ. Human ortholog(s) of this gene implicated in hereditary spastic paraplegia 84. Orthologous to human PI4KA (phosphatidylinositol 4-kinase alpha). PHENOTYPE: Mice homozygous for a targeted knock-out or knock-in conditionally activated exhibit premature death associated with degeneration of mucosal cells in the stomach and intestines. Mice homozygous for a knock-out allele exhibit early embryonic lethality. [provided by MGI curators] |