PIGO

Chr 9AR

phosphatidylinositol glycan anchor biosynthesis class O

Also known as: HPMRS2, hGPCR43

NCBI Gene: 84720 ENSG00000165282 UniProt: Q8TEQ8 OMIM: 614730

The protein transfers ethanolaminephosphate to the third mannose in glycosylphosphatidylinositol (GPI) anchor biosynthesis, which anchors proteins to cell surfaces including blood cells. Autosomal recessive mutations cause hyperphosphatasia with impaired intellectual development syndrome 2. The pathogenic mechanism involves loss of function leading to defective GPI anchor formation.

OMIM ResearchSummary from RefSeq, OMIM, UniProt, Mechanism

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. At least three alternatively spliced transcripts encoding two distinct isoforms have been found for this gene. [provided by RefSeq, Jan 2011]

OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Hyperphosphatasia with impaired intellectual development syndrome 2MIM #614749

Clinical highlights

Gene-disease validity (ClinGen)

complex neurodevelopmental disorder · ARDefinitivesufficient evidence for diagnostic panels

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype), though the gene is not strongly LoF-constrained in the population — weigh truncating variants against that tolerance.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

—

P/LP submissions

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P/LP missense

0.81

LOEUF

LOF

Mechanism· G2P