Aliases for PI4KA Gene
External Ids for PI4KA Gene
Previous HGNC Symbols for PI4KA Gene
Previous GeneCards Identifiers for PI4KA Gene
This gene encodes a phosphatidylinositol (PI) 4-kinase which catalyzes the first committed step in the biosynthesis of phosphatidylinositol 4,5-bisphosphate. The mammalian PI 4-kinases have been classified into two types, II and III, based on their molecular mass, and modulation by detergent and adenosine. The protein encoded by this gene is a type III enzyme that is not inhibited by adenosine. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Apr 2018]
GeneCards Summary for PI4KA Gene
PI4KA (Phosphatidylinositol 4-Kinase Alpha) is a Protein Coding gene. Diseases associated with PI4KA include Polymicrogyria, Perisylvian, With Cerebellar Hypoplasia And Arthrogryposis and Heparin Cofactor Ii Deficiency. Among its related pathways are Glycerophospholipid biosynthesis and superpathway of inositol phosphate compounds. Gene Ontology (GO) annotations related to this gene include transferase activity, transferring phosphorus-containing groups and kinase activity. An important paralog of this gene is PI4KB.
UniProtKB/Swiss-Prot Summary for PI4KA Gene
Acts on phosphatidylinositol (PtdIns) in the first committed step in the production of the second messenger inositol-1,4,5,-trisphosphate.