Entrez gene ID | | 23396 |
Official gene symbol | | PIP5K1C |
Full name | | phosphatidylinositol-4-phosphate 5-kinase, type I, gamma |
Aliases | | ,KIAA0589,LCCS3,PIP5K-GAMMA,PIP5Kgamma,PIPKIg_v4, |
Gene summary | | This locus encodes a type I phosphatidylinositol 4-phosphate 5-kinase. The encoded protein catalyzes phosphorylation of phosphatidylinositol 4-phosphate, producing phosphatidylinositol 4,5-bisphosphate. This enzyme is found at synapses and has been found to play roles in endocytosis and cell migration. Mutations at this locus have been associated with lethal congenital contractural syndrome. Alternatively spliced transcript variants encoding different isoforms have been described. |
Location | | Chromosome: 19 Locus: 19p13.3 |
Gene position | | 3700445 - 3630182 Map Viewer |
Gene orientation | | minus |
Gene size | | 70264 bp |
Gene sequence |
| |
OMIM ID | | 606102 |
|