PIGT

Component of the GPI transamidase complex. Essential for transfer of GPI to proteins, particularly for formation of carbonyl intermediates.

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.

Glycolipid biosynthesis; glycosylphosphatidylinositol-anchor biosynthesis.

The disulfide bond between PIGK/GPI8 and PIGT is important for normal enzyme activity.

Belongs to the PIGT family.

• Endoplasmic reticulum membrane
• Single-pass type I membrane protein

CGI-06, PSEC0163, UNQ716/PRO1379, PIGT, GPI transamidase component PIG-T, Phosphatidylinositol-glycan biosynthesis class T protein

• entrezGene:51604
• omim:610272
• swissprot:Q969N2

Proteins

Immunology & Infectious Disease

65700Da