| 释义 |
- Function
- Clinical aspect
- References
- Further reading
{{Infobox_gene}}Phosphatidylinositol glycan anchor biosynthesis, class N is a protein that in humans is encoded by the PIGN gene.[1] 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. Clinical aspectMutations in PIGN cause {{SWL|type=mutation_results_in|target=Congenital Diaphragmatic Hernia|label=Congenital Diaphragmatic Hernia}}.[2] References 1. ^{{cite web | title = Entrez Gene: Phosphatidylinositol glycan anchor biosynthesis, class N | url = https://www.ncbi.nlm.nih.gov/gene/23556}}
2. ^{{cite journal | vauthors = Brady PD, Moerman P, De Catte L, Deprest J, Devriendt K, Vermeesch JR | title = Exome sequencing identifies a recessive PIGN splice site mutation as a cause of syndromic congenital diaphragmatic hernia | journal = European Journal of Medical Genetics | volume = 57 | issue = 9 | pages = 487–93 | date = September 2014 | pmid = 24852103 | doi = 10.1016/j.ejmg.2014.05.001 }}
Further reading {{refbegin | 2}}- {{cite journal | vauthors = Chen CP, Lin HM, Leung C, Lin SP, Su YN, Su JW, Chen YT, Wang W | title = Partial monosomy 9p (9p22.2-->pter) and partial trisomy 18q (18q21.32-->qter) in a female infant with anorectal malformations | journal = Genetic Counseling | volume = 23 | issue = 2 | pages = 201–6 | year = 2012 | pmid = 22876578 }}
- {{cite journal | vauthors = Kinoshita T, Inoue N | title = Dissecting and manipulating the pathway for glycosylphos-phatidylinositol-anchor biosynthesis | journal = Current Opinion in Chemical Biology | volume = 4 | issue = 6 | pages = 632–8 | date = December 2000 | pmid = 11102867 | doi = 10.1016/s1367-5931(00)00151-4 }}
- {{cite journal | vauthors = Gaynor EC, Mondésert G, Grimme SJ, Reed SI, Orlean P, Emr SD | title = MCD4 encodes a conserved endoplasmic reticulum membrane protein essential for glycosylphosphatidylinositol anchor synthesis in yeast | journal = Molecular Biology of the Cell | volume = 10 | issue = 3 | pages = 627–48 | date = March 1999 | pmid = 10069808 | pmc = 25192 | doi = 10.1091/mbc.10.3.627 }}
- {{cite journal | vauthors = Hong Y, Maeda Y, Watanabe R, Ohishi K, Mishkind M, Riezman H, Kinoshita T | title = Pig-n, a mammalian homologue of yeast Mcd4p, is involved in transferring phosphoethanolamine to the first mannose of the glycosylphosphatidylinositol | journal = The Journal of Biological Chemistry | volume = 274 | issue = 49 | pages = 35099–106 | date = December 1999 | pmid = 10574991 | doi = 10.1074/jbc.274.49.35099 }}
- {{cite journal | vauthors = McDonough CW, Bostrom MA, Lu L, Hicks PJ, Langefeld CD, Divers J, Mychaleckyj JC, Freedman BI, Bowden DW | title = Genetic analysis of diabetic nephropathy on chromosome 18 in African Americans: linkage analysis and dense SNP mapping | journal = Human Genetics | volume = 126 | issue = 6 | pages = 805–17 | date = December 2009 | pmid = 19690890 | pmc = 2937163 | doi = 10.1007/s00439-009-0732-8 }}
- {{cite journal | vauthors = Maydan G, Noyman I, Har-Zahav A, Neriah ZB, Pasmanik-Chor M, Yeheskel A, Albin-Kaplanski A, Maya I, Magal N, Birk E, Simon AJ, Halevy A, Rechavi G, Shohat M, Straussberg R, Basel-Vanagaite L | title = Multiple congenital anomalies-hypotonia-seizures syndrome is caused by a mutation in PIGN | journal = Journal of Medical Genetics | volume = 48 | issue = 6 | pages = 383–9 | date = June 2011 | pmid = 21493957 | doi = 10.1136/jmg.2010.087114 }}
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