Enables 1-phosphatidylinositol 4-kinase activity. Involved in myelination in peripheral nervous system and phosphatidylinositol phosphate biosynthetic process. Acts upstream of or within Schwann cell migration and actin cytoskeleton organization. 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).
MGI Description
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]