PIGT
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. [provided by RefSeq]
Full Name
phosphatidylinositol glycan anchor biosynthesis, class T
Function
Component of the GPI transamidase complex. Essential for transfer of GPI to proteins, particularly for formation of carbonyl intermediates.
Biological Process
Attachment of GPI anchor to proteinManual Assertion Based On ExperimentIBA:GO_Central
Neuron apoptotic processIEA:Ensembl
Neuron differentiationIEA:Ensembl
Cellular Location
Endoplasmic reticulum membrane
Involvement in disease
Multiple congenital anomalies-hypotonia-seizures syndrome 3 (MCAHS3):
An autosomal recessive syndrome characterized by distinct facial features, intellectual disability, hypotonia and seizures, in combination with abnormal skeletal, endocrine, and ophthalmologic findings including impaired vision, as well as abnormal motility of the eyes.
Paroxysmal nocturnal hemoglobinuria 2 (PNH2):
A disorder characterized by hemolytic anemia with hemoglobinuria, thromboses in large vessels, and a deficiency in hematopoiesis. Red blood cell breakdown with release of hemoglobin into the urine is manifested most prominently by dark-colored urine in the morning.
Topology
Lumenal: 22-527
Helical: 528-548
Cytoplasmic: 549-578
PTM
The disulfide bond between PIGK/GPI8 and PIGT is important for normal enzyme activity.
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Datasheet