PIGB

Chr 15

phosphatidylinositol glycan anchor biosynthesis class B

Also known as: AFFND1, DEE80, EIEE80, GPI-MT-III, PIG-B

NCBI Gene: 9488 ENSG00000069943 UniProt: Q92521

PIGB encodes an alpha-1,2-mannosyltransferase that catalyzes the addition of the third mannose residue during glycosylphosphatidylinositol (GPI) anchor biosynthesis, which is essential for anchoring proteins to cell surfaces. Mutations cause developmental and epileptic encephalopathy 80, inherited in an autosomal recessive pattern. The gene is highly intolerant to loss-of-function variants (pLI near 1), indicating that complete loss of function is likely incompatible with normal development.

ResearchSummary from RefSeq, OMIM, UniProt

This gene encodes a transmembrane protein that is located in the endoplasmic reticulum and is involved in GPI-anchor biosynthesis. The glycosylphosphatidylinositol (GPI) anchor is a glycolipid found on many blood cells and serves to anchor proteins to the cell surface. This gene is thought to encode a member of a family of dolichol-phosphate-mannose (Dol-P-Man) dependent mannosyltransferases. [provided by RefSeq, Jul 2008]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtDevelopmental and epileptic encephalopathy 80

Clinical highlights

Gene-disease validity (ClinGen)

developmental and epileptic encephalopathy, 80 · ARModerateconsider for supplementary testing

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

—

P/LP missense

1.06

LOEUF

LOF

Mechanism· G2P

Some data sources returned errors (1)

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