Recombinant Human GPI transamidase component PIG-T (PIGT), Truncated

Uniprot Id

Q969N2

Target Species

Human

Target Name

PIGT

Target Full Name

GPI transamidase component PIG-T

Target Function

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

Target Involvement

Multiple congenital anomalies-hypotonia-seizures syndrome 3 (MCAHS3); Paroxysmal nocturnal hemoglobinuria 2 (PNH2)

Target Subcellular Location

Endoplasmic reticulum membrane; Single-pass type I membrane protein.

Target Protein Families

PIGT family

Target Synonyms

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

Target Background

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.