PIGT
Function
Component of the GPI transamidase complex. Essential for transfer of GPI to proteins, particularly for formation of carbonyl intermediates.
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.
None
The disease is caused by variants affecting the gene represented in this entry.
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.
None
Disease susceptibility is associated with variants affecting the gene represented in this entry.
Pathway
Glycolipid biosynthesis; glycosylphosphatidylinositol-anchor biosynthesis.
Post-translational modifications
The disulfide bond between PIGK/GPI8 and PIGT is important for normal enzyme activity.
Sequence Similarities
Belongs to the PIGT family.
Cellular localization
- Endoplasmic reticulum membrane
- Single-pass type I membrane protein
Alternative names
CGI-06, PSEC0163, UNQ716/PRO1379, PIGT, GPI transamidase component PIG-T, Phosphatidylinositol-glycan biosynthesis class T protein