PIGN (gene)
Lua error in Module:Infobox_gene at line 53: attempt to index field 'wikibase' (a nil value). Phosphatidylinositol glycan anchor biosynthesis, class N is a protein that in humans is encoded by the PIGN gene.[1]
Function
[edit | edit source]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.
Clinical aspect
[edit | edit source]Mutations in PIGN cause Congenital Diaphragmatic Hernia.[2]
References
[edit | edit source]Further reading
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This article incorporates text from the United States National Library of Medicine, which is in the public domain.
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