Gene Symbol | PIGT |
Entrez Gene ID | 51604 |
Full Name | phosphatidylinositol glycan anchor biosynthesis class T |
Synonyms | CGI-06,MCAHS3,NDAP,PNH2 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | 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]. |
Disorder MIM: | |
Disorder Html: | ?Paroxysmal nocturnal hemoglobinuria 2, 615399 (3); Multiple congenital anomalies-hypotonia-seizures syndrome 3, 615398 (3) |