Species Human Entrez 23556 | Human Mouse Ensembl ENSG00000197563 | |
Aliases PIGN, MCAHS, MCAHS1, MCD4, MDC4, PIG-N, phosphatidylinositol glycan anchor biosynthesis class N External IDs MGI: 1351629 HomoloGene: 6330 GeneCards: PIGN | ||
Phosphatidylinositol glycan anchor biosynthesis, class N is a protein that in humans is encoded by the PIGN gene.
Contents
Function
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].
Clinical aspect
Mutations in PIGN cause Congenital Diaphragmatic Hernia .
References
PIGN (gene) Wikipedia(Text) CC BY-SA