Primary Identifier | MGI:1334433 | Organism | mouse, laboratory |
Chromosome | 3 | NCBI Gene Number | 107650 |
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 and 14-3-3 protein binding activity. Predicted to be involved in inner ear development; phosphatidylinositol phosphate biosynthetic process; and phosphatidylinositol-mediated signaling. Predicted to act upstream of or within lysosome organization. Predicted to be located in Golgi membrane. Predicted to be active in cytoplasm and membrane. Is expressed in several structures, including extraembryonic component; neural ectoderm; and vertebral axis musculature. Human ortholog(s) of this gene implicated in autosomal dominant nonsyndromic deafness 87. Orthologous to human PI4KB (phosphatidylinositol 4-kinase beta). PHENOTYPE: Mice homzygous for a conditional allele activated in Schwann cells exhibit limb grasping, hindlimb spasticity, abnormal gait, decreased nerve conduction velocity, abnormal node of Ranvier morphology, and abnormal Schwann cell morphology. [provided by MGI curators] |