Gene Symbol | PI4KA |
Entrez Gene ID | 5297 |
Full Name | phosphatidylinositol 4-kinase alpha |
Synonyms | PI4K-ALPHA,PIK4CA,PMGYCHA,pi4K230 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | 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. [provided by RefSeq, Sep 2014]. |
Disorder MIM: | |
Disorder Html: | Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis, 616531 (3) |