phosphatidylinositol glycan anchor biosynthesis class T
The information on this page was automatically extracted from online scientific databases.
From NCBI Gene:
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]
Component of the GPI transamidase complex. Essential for transfer of GPI to proteins, particularly for formation of carbonyl intermediates.
From NCBI Gene:
- Multiple congenital anomalies-hypotonia-seizures syndrome 3
- Paroxysmal nocturnal hemoglobinuria 2
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. [MIM:615398]
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. [MIM:615399]