PIGC

Chr 1AR

phosphatidylinositol glycan anchor biosynthesis class C

Also known as: GPI2, GPIBD16, MRT62

NCBI Gene: 5279 ENSG00000135845 UniProt: Q92535 OMIM: 601730

This protein is a subunit of the GPI-N-acetylglucosaminyltransferase complex that catalyzes the first step of glycosylphosphatidylinositol (GPI) anchor biosynthesis, which is essential for anchoring many proteins to cell surfaces. Biallelic mutations cause glycosylphosphatidylinositol biosynthesis defect 16, inherited in an autosomal recessive pattern. The gene shows tolerance to loss-of-function variants (LOEUF 1.056), suggesting that complete loss of function may be required for disease manifestation.

OMIM ResearchSummary from RefSeq, OMIM, UniProt

This gene encodes an endoplasmic reticulum associated protein that is involved in glycosylphosphatidylinositol (GPI) lipid anchor biosynthesis. The GPI lipid anchor is a glycolipid found on many blood cells and serves to anchor proteins to the cell surface. The encoded protein is one subunit of the GPI N-acetylglucosaminyl (GlcNAc) transferase that transfers GlcNAc to phosphatidylinositol (PI) on the cytoplasmic side of the endoplasmic reticulum. Two alternatively spliced transcripts that encode the same protein have been found for this gene. A pseudogene on chromosome 11 has also been characterized. [provided by RefSeq, Jul 2008]

OMIM ResearchGenerating clinical summary…