PIGN Antibody – Rabbit Polyclonal

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 expressed in the endoplasmic reticulum and transfers phosphoethanolamine (EtNP) to the first mannose of the GPI anchor. Two alternatively spliced variants, which encode an identical isoform, have been reported. [provided by RefSeq, Jul 2008]

PIGN: Ethanolamine phosphate transferase involved in glycosylphosphatidylinositol-anchor biosynthesis. Transfers ethanolamine phosphate to the first alpha-1,4-linked mannose of the glycosylphosphatidylinositol precursor of GPI-anchor. Defects in PIGN are the cause of multiple congenital anomalies-hypotonia-seizures syndrome type 1 (MCAHS1). An autosomal recessive disorder characterized by neonatal hypotonia, lack of psychomotor development, seizures, dysmorphic features, and variable congenital anomalies involving the cardiac, urinary, and gastrointestinal systems. Most affected individuals die before 3 years of age. Belongs to the PIGG/PIGN/PIGO family. PIGN subfamily.

Protein type: EC 2.-.-.-; Endoplasmic reticulum; Glycan Metabolism - glycosylphosphatidylinositol (GPI)-anchor biosynthesis; Membrane protein, integral; Membrane protein, multi-pass; Transferase

Chromosomal Location of Human Ortholog: 18q21.33

Cellular Component: cytosol; endoplasmic reticulum membrane; integral component of membrane; membrane; plasma membrane

Molecular Function: mannose-ethanolamine phosphotransferase activity; phosphotransferase activity, for other substituted phosphate groups

Biological Process: GPI anchor biosynthetic process; preassembly of GPI anchor in ER membrane

Disease: Multiple Congenital Anomalies-hypotonia-seizures Syndrome 1