Phosphatidylinositol Glycan Anchor Biosynthesis Class A Protein

Alternative Names

  • PIGA
  • Phosphatidylinositol Glycan Anchor Biosynthesis Class A Protein, Pseudogene 1, Included
  • PIGAP1, Included
  • PIGAP, Included
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OMIM Number

311770

NCBI Gene ID

5277

Uniprot ID

P37287

Length

16,104 bases

No. of Exons

7

No. of isoforms

3

Protein Name

Phosphatidylinositol N-acetylglucosaminyltransferase subunit A

Molecular Mass

54127 Da

Amino Acid Count

484

Genomic Location

chrX:15,319,451-15,335,554

Gene Map Locus
Xp22.2

Description

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]

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_002641.3:c.1077_1078delinsCUnited Arab EmiratesNC_000023.11:g.15324775_15324776delinsGNG_009786.1:g.15763_15764delinsC; NM_002641.3:c.1077_1078delinsC; NP_002632.1:p.Leu359PhefsTer8
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