PIGA phosphatidylinositol glycan anchor biosynthesis class A

Gene ID: 5277, updated on 3-Apr-2024
Gene type: protein coding
Also known as: GPI3; PNH1; PIG-A; MCAHS2; NEDEPH

Summary

This gene encodes a protein required for synthesis of N-acetylglucosaminyl phosphatidylinositol (GlcNAc-PI), the first intermediate in the biosynthetic pathway of GPI anchor. The GPI anchor is a glycolipid found on many blood cells and which serves to anchor proteins to the cell surface. Paroxysmal nocturnal hemoglobinuria, an acquired hematologic disorder, has been shown to result from mutations in this gene. Alternate splice variants have been characterized. A related pseudogene is located on chromosome 12. [provided by RefSeq, Jun 2010]

Associated conditions

See all available tests in GTR for this gene

Description	Tests
Multiple congenital anomalies-hypotonia-seizures syndrome 2 MedGen: C3275508OMIM: 300868GeneReviews: Not available	See labs
Neurodevelopmental disorder with epilepsy and hemochromatosis MedGen: CN307964OMIM: 301072GeneReviews: Not available	See labs
Paroxysmal nocturnal hemoglobinuria 1 MedGen: C3806670OMIM: 300818GeneReviews: Not available	See labs

Copy number response

Description
Copy number response Triplosensitivity No evidence available (Last evaluated 2021-11-09) ClinGen Genome Curation Page Haploinsufficency Some evidence for dosage pathogenicity (Last evaluated 2021-11-09) ClinGen Genome Curation PagePubMed

Genomic context

Location:: Xp22.2

Sequence:: Chromosome: X; NC_000023.11 (15319451..15335554, complement)

Total number of exons:: 7

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 PIGA 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
PIGA @ LOVD
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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