PIGQ

Chr 16

phosphatidylinositol glycan anchor biosynthesis class Q

Also known as: DEE77, EIEE77, GPI1, GPIBD19, MCAHS4, c407A10.1

NCBI Gene: 9091 ENSG00000007541 UniProt: Q9BRB3

The PIGQ protein is a N-acetylglucosaminyl transferase component that catalyzes the first step in glycosylphosphatidylinositol (GPI)-anchor biosynthesis, transferring N-acetylglucosamine from UDP-GlcNAc to phosphatidylinositol to create anchors that attach proteins to cell surfaces. Mutations cause multiple congenital anomalies-hypotonia-seizures syndrome 4 through an autosomal recessive inheritance pattern. The pathogenic mechanism involves gain-of-function mutations.

ResearchSummary from RefSeq, OMIM, UniProt, Mechanism

This gene is involved in the first step in glycosylphosphatidylinositol (GPI)-anchor biosynthesis. The GPI-anchor is a glycolipid found on many blood cells and serves to anchor proteins to the cell surface. This gene encodes a N-acetylglucosaminyl transferase component that is part of the complex that catalyzes transfer of N-acetylglucosamine (GlcNAc) from UDP-GlcNAc to phosphatidylinositol (PI). Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2012]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtMultiple congenital anomalies-hypotonia-seizures syndrome 4

Clinical highlights

Gene-disease validity (ClinGen)

developmental and epileptic encephalopathy, 77 · 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

0.90

LOEUF

LOF

Mechanism· G2P

Some data sources returned errors (1)

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