Phosphatidylinositol Glycan Anchor Biosynthesis Class O Protein

Alternative Names

  • PIGO
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OMIM Number

614730

NCBI Gene ID

84720

Uniprot ID

Q8TEQ8

Length

7,904 bases

No. of Exons

13

No. of isoforms

2

Protein Name

GPI ethanolamine phosphate transferase 3

Molecular Mass

118699 Da

Amino Acid Count

1089

Genomic Location

chr9:35,088,688-35,096,591

Gene Map Locus
9p13.3

Description

This gene encodes a protein that is involved in glycosylphosphatidylinositol (GPI)-anchor biosynthesis. The GPI-anchor is a glycolipid which contains three mannose molecules in its core backbone. The GPI-anchor is found on many blood cells and serves to anchor proteins to the cell surface. This protein is involved in the transfer of ethanolaminephosphate (EtNP) to the third mannose in GPI. [From RefSeq]

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_032634.4:c.1109A>GQatarNC_000009.12:g.35093040T>CLikely PathogenicPathogenicNG_031990.1:g.8562A>G; NM_032634.4:c.1109A>G; NP_116023.2:p.Asn370Ser12141042671067428
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