PI4KA gene

phosphatidylinositol 4-kinase alpha

The information on this page was automatically extracted from online scientific databases.

From NCBI 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. [provided by RefSeq, Sep 2014]

From UniProt:

Acts on phosphatidylinositol (PtdIns) in the first committed step in the production of the second messenger inositol-1,4,5,-trisphosphate.

From NCBI Gene:

  • Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis

From UniProt:

Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis (PMGYCHA): A form of polymicrogyria, a malformation of the cortex in which the brain surface is irregular and characterized by an excessive number of small gyri with abnormal lamination. Polymicrogyria is a heterogeneous disorder, considered to be the result of postmigratory abnormal cortical organization. PMGYCHA patients manifest perisylvian polymicrogyria, cerebellar hypoplasia or dysplasia, and variable contractures of the limbs or fingers. [MIM:616531]

Cytogenetic Location: 22q11.21, which is the long (q) arm of chromosome 22 at position 11.21

Molecular Location: base pairs 20,707,691 to 20,858,812 on chromosome 22 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 22q11.21, which is the long (q) arm of chromosome 22 at position 11.21
  • PI4K-ALPHA
  • pi4K230
  • PIK4CA
  • PMGYCHA