PIGT

Chr 20

phosphatidylinositol glycan anchor biosynthesis class T

Also known as: CGI-06, MCAHS3, NDAP, PIG-T, PNH2

NCBI Gene: 51604 ENSG00000124155 UniProt: Q969N2

The encoded protein serves as an essential component of GPI transamidase, which catalyzes the transfer of glycosylphosphatidylinositol anchors to proteins in the endoplasmic reticulum for cell surface attachment. Mutations cause multiple congenital anomalies-hypotonia-seizures syndrome 3 through autosomal recessive inheritance and paroxysmal nocturnal hemoglobinuria 2 through somatic mutations or autosomal dominant inheritance. The pathogenicity results from defective GPI-anchor biosynthesis, disrupting normal protein anchoring to cell membranes.

ResearchSummary from RefSeq, OMIM, UniProt

This gene encodes a protein that is involved 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 protein is an essential component of the multisubunit enzyme, GPI transamidase. GPI transamidase mediates GPI anchoring in the endoplasmic reticulum, by catalyzing the transfer of fully assembled GPI units to proteins. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, May 2012]

ResearchGenerating clinical summary…