PIGN (gene)

VALUE_ERROR (nil)
Identifiers
Aliases
External IDs	GeneCards: [1]
Orthologs
Species	Human	Mouse
Entrez	n/a	n/a
Ensembl	n/a	n/a
UniProt	n/a	n/a
RefSeq (mRNA)	n/a	n/a
RefSeq (protein)	n/a	n/a
Location (UCSC)	n/a	n/a
PubMed search	n/a	n/a
Wikidata
View/Edit Human

Phosphatidylinositol glycan anchor biosynthesis, class N is a protein that in humans is encoded by the PIGN gene.

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 .

Further reading

• Chen, C. P.; Lin, H. M.; Leung, C; Lin, S. P.; Su, Y. N.; Su, J. W.; Chen, Y. T.; Wang, W (2012). "Partial monosomy 9p (9p22.2-->pter) and partial trisomy 18q (18q21.32-->qter) in a female infant with anorectal malformations". Genetic counseling (Geneva, Switzerland). 23 (2): 201–6. PMID 22876578.
• Kinoshita, T; Inoue, N (2000). "Dissecting and manipulating the pathway for glycosylphos-phatidylinositol-anchor biosynthesis". Current Opinion in Chemical Biology. 4 (6): 632–8. doi:10.1016/s1367-5931(00)00151-4. PMID 11102867.
• Gaynor, E. C.; Mondésert, G; Grimme, S. J.; Reed, S. I.; Orlean, P; Emr, S. D. (1999). "MCD4 encodes a conserved endoplasmic reticulum membrane protein essential for glycosylphosphatidylinositol anchor synthesis in yeast". Molecular Biology of the Cell. 10 (3): 627–48. doi:10.1091/mbc.10.3.627. PMC 25192. PMID 10069808.
• Hong, Y; Maeda, Y; Watanabe, R; Ohishi, K; Mishkind, M; Riezman, H; Kinoshita, T (1999). "Pig-n, a mammalian homologue of yeast Mcd4p, is involved in transferring phosphoethanolamine to the first mannose of the glycosylphosphatidylinositol". The Journal of Biological Chemistry. 274 (49): 35099–106. doi:10.1074/jbc.274.49.35099. PMID 10574991.
• McDonough, C. W.; Bostrom, M. A.; Lu, L; Hicks, P. J.; Langefeld, C. D.; Divers, J; Mychaleckyj, J. C.; Freedman, B. I.; Bowden, D. W. (2009). "Genetic analysis of diabetic nephropathy on chromosome 18 in African Americans: Linkage analysis and dense SNP mapping". Human Genetics. 126 (6): 805–17. doi:10.1007/s00439-009-0732-8. PMC 2937163. PMID 19690890.
• Maydan, G; Noyman, I; Har-Zahav, A; Neriah, Z. B.; Pasmanik-Chor, M; Yeheskel, A; Albin-Kaplanski, A; Maya, I; Magal, N; Birk, E; Simon, A. J.; Halevy, A; Rechavi, G; Shohat, M; Straussberg, R; Basel-Vanagaite, L (2011). "Multiple congenital anomalies-hypotonia-seizures syndrome is caused by a mutation in PIGN". Journal of Medical Genetics. 48 (6): 383–9. doi:10.1136/jmg.2010.087114. PMID 21493957.

This article incorporates text from the United States National Library of Medicine, which is in the public domain.