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 Polymicrogyria, Bilateral Perisylvian, X-Linked. Among its related pathways are superpathway of inositol phosphate compounds and Ectoderm Differentiation. 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.