PI4KA phosphatidylinositol 4-kinase alpha

Gene ID: 5297, updated on 7-Apr-2024
Gene type: protein coding
Also known as: SPG84; GIDID2; PIK4CA; PMGYCHA; pi4K230; PI4K-ALPHA

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. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Apr 2018]

Associated conditions

See all available tests in GTR for this gene

Description	Tests
Gastrointestinal defects and immunodeficiency syndrome 2 MedGen: C5676901OMIM: 619708GeneReviews: PI4KA-Related Disorder	not available
Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis MedGen: C4225295OMIM: 616531GeneReviews: PI4KA-Related Disorder	See labs
Spastic paraplegia 84, autosomal recessive MedGen: C5562025OMIM: 619621GeneReviews: PI4KA-Related Disorder	not available

Genomic context

Location:: 22q11.21

Sequence:: Chromosome: 22; NC_000022.11 (20707691..20858811, complement)

Total number of exons:: 57

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Variation

Resource	Links for this gene
ClinVar	Variants reported to ClinVar
dbVar	Studies and variants
SNP	Variation Viewer for PI4KA variants
Genome viewer	Explore NCBI-annotated and select non-NCBI annotated genome assemblies

Links

ClinVar
Related medical variations
dbVar
Link from Gene to dbVar
MedGen
Related information in MedGen
OMIM
Link to related OMIM entry
PubMed (OMIM)
Gene links to PubMed derived from omim_pubmed_cited links
RefSeq RNAs
Link to Nucleotide RefSeq RNAs
RefSeqGene
Link to Nucleotide RefSeqGenes
Variation Viewer
Related Variants

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