Aliases for PI4K2A Gene
External Ids for PI4K2A Gene
Previous GeneCards Identifiers for PI4K2A Gene
Phosphatidylinositolpolyphosphates (PtdInsPs) are centrally involved in many biologic processes, ranging from cell growth and organization of the actin cytoskeleton to endo- and exocytosis. PI4KII phosphorylates PtdIns at the D-4 position, an essential step in the biosynthesis of PtdInsPs (Barylko et al., 2001 [PubMed 11244087]).[supplied by OMIM, Mar 2008]
GeneCards Summary for PI4K2A Gene
PI4K2A (Phosphatidylinositol 4-Kinase Type 2 Alpha) is a Protein Coding gene. Diseases associated with PI4K2A include Hermansky-Pudlak Syndrome and Hereditary Spastic Paraplegia. Among its related pathways are superpathway of inositol phosphate compounds and Metabolism. Gene Ontology (GO) annotations related to this gene include phosphotransferase activity, alcohol group as acceptor. An important paralog of this gene is ENSG00000249967.
UniProtKB/Swiss-Prot Summary for PI4K2A Gene
Membrane-bound phosphatidylinositol-4 kinase (PI4-kinase) that catalyzes the phosphorylation of phosphatidylinositol (PI) to phosphatidylinositol 4-phosphate (PI4P), a lipid that plays important roles in endocytosis, Golgi function, protein sorting and membrane trafficking and is required for prolonged survival of neurons. Besides, phosphorylation of phosphatidylinositol (PI) to phosphatidylinositol 4-phosphate (PI4P) is the first committed step in the generation of phosphatidylinositol 4,5-bisphosphate (PIP2), a precursor of the second messenger inositol 1,4,5-trisphosphate (InsP3).