| 释义 |
- Function
- References
- Further reading
- External links
{{Infobox_gene}}Phosphomannomutase 2 is an enzyme that in humans is encoded by the PMM2 gene.[1][2] Function Phosphomannomutase 2 catalyzes the isomerization of mannose 6-phosphate to mannose 1-phosphate. Mannose 1-phosphate is a precursor to GDP-mannose necessary for the synthesis of dolichol-P-oligosaccharides. Mutations in the gene have been shown to cause defects in the protein glycosylation pathway which manifest as congenital disorder of glycosylation type Ia.[2] References 1. ^{{cite journal | vauthors = Matthijs G, Schollen E, Pardon E, Veiga-Da-Cunha M, Jaeken J, Cassiman JJ, Van Schaftingen E | title = Mutations in PMM2, a phosphomannomutase gene on chromosome 16p13, in carbohydrate-deficient glycoprotein type I syndrome (Jaeken syndrome) | journal = Nature Genetics | volume = 16 | issue = 1 | pages = 88–92 | date = May 1997 | pmid = 9140401 | pmc = | doi = 10.1038/ng0597-88 }}
2. ^1 {{cite web | title = Entrez Gene: PMM2 phosphomannomutase 2| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=5373| accessdate = }}
Further reading {{refbegin | 2}}- {{cite journal | vauthors = Matthijs G, Schollen E, Heykants L, Grünewald S | title = Phosphomannomutase deficiency: the molecular basis of the classical Jaeken syndrome (CDGS type Ia) | journal = Molecular Genetics and Metabolism | volume = 68 | issue = 2 | pages = 220–6 | date = October 1999 | pmid = 10527672 | doi = 10.1006/mgme.1999.2914 }}
- {{cite journal | vauthors = Jaeken J, Matthijs G | title = Congenital disorders of glycosylation | journal = Annual Review of Genomics and Human Genetics | volume = 2 | issue = | pages = 129–51 | year = 2002 | pmid = 11701646 | doi = 10.1146/annurev.genom.2.1.129 }}
- {{cite journal | vauthors = Martinsson T, Bjursell C, Stibler H, Kristiansson B, Skovby F, Jaeken J, Blennow G, Strömme P, Hanefeld F, Wahlström J | title = Linkage of a locus for carbohydrate-deficient glycoprotein syndrome type I (CDG1) to chromosome 16p, and linkage disequilibrium to microsatellite marker D16S406 | journal = Human Molecular Genetics | volume = 3 | issue = 11 | pages = 2037–42 | date = November 1994 | pmid = 7874123 | doi = }}
- {{cite journal | vauthors = Matthijs G, Schollen E, Pirard M, Budarf ML, Van Schaftingen E, Cassiman JJ | title = PMM (PMM1), the human homologue of SEC53 or yeast phosphomannomutase, is localized on chromosome 22q13 | journal = Genomics | volume = 40 | issue = 1 | pages = 41–7 | date = February 1997 | pmid = 9070917 | doi = 10.1006/geno.1996.4536 }}
- {{cite journal | vauthors = Schollen E, Pardon E, Heykants L, Renard J, Doggett NA, Callen DF, Cassiman JJ, Matthijs G | title = Comparative analysis of the phosphomannomutase genes PMM1, PMM2 and PMM2psi: the sequence variation in the processed pseudogene is a reflection of the mutations found in the functional gene | journal = Human Molecular Genetics | volume = 7 | issue = 2 | pages = 157–64 | date = February 1998 | pmid = 9425221 | doi = 10.1093/hmg/7.2.157 }}
- {{cite journal | vauthors = Matthijs G, Schollen E, Van Schaftingen E, Cassiman JJ, Jaeken J | title = Lack of homozygotes for the most frequent disease allele in carbohydrate-deficient glycoprotein syndrome type 1A | journal = American Journal of Human Genetics | volume = 62 | issue = 3 | pages = 542–50 | date = March 1998 | pmid = 9497260 | pmc = 1376957 | doi = 10.1086/301763 }}
- {{cite journal | vauthors = Kjaergaard S, Skovby F, Schwartz M | title = Absence of homozygosity for predominant mutations in PMM2 in Danish patients with carbohydrate-deficient glycoprotein syndrome type 1 | journal = European Journal of Human Genetics | volume = 6 | issue = 4 | pages = 331–6 | year = 1998 | pmid = 9781039 | doi = 10.1038/sj.ejhg.5200194 }}
- {{cite journal | vauthors = Bjursell C, Wahlström J, Berg K, Stibler H, Kristiansson B, Matthijs G, Martinsson T | title = Detailed mapping of the phosphomannomutase 2 (PMM2) gene and mutation detection enable improved analysis for Scandinavian CDG type I families | journal = European Journal of Human Genetics | volume = 6 | issue = 6 | pages = 603–11 | year = 1999 | pmid = 9887379 | doi = 10.1038/sj.ejhg.5200234 }}
- {{cite journal | vauthors = Kondo I, Mizugishi K, Yoneda Y, Hashimoto T, Kuwajima K, Yuasa I, Shigemoto K, Kuroda Y | title = Missense mutations in phosphomannomutase 2 gene in two Japanese families with carbohydrate-deficient glycoprotein syndrome type 1 | journal = Clinical Genetics | volume = 55 | issue = 1 | pages = 50–4 | date = January 1999 | pmid = 10066032 | doi = 10.1034/j.1399-0004.1999.550109.x }}
- {{cite journal | vauthors = Vuillaumier-Barrot S, Barnier A, Cuer M, Durand G, Grandchamp B, Seta N | title = Characterization of the 415G>A (E139K) PMM2 mutation in carbohydrate-deficient glycoprotein syndrome type Ia disrupting a splicing enhancer resulting in exon 5 skipping | journal = Human Mutation | volume = 14 | issue = 6 | pages = 543–4 | date = December 1999 | pmid = 10571956 | doi = 10.1002/(SICI)1098-1004(199912)14:6<543::AID-HUMU17>3.0.CO;2-S }}
- {{cite journal | vauthors = Kjaergaard S, Skovby F, Schwartz M | title = Carbohydrate-deficient glycoprotein syndrome type 1A: expression and characterisation of wild type and mutant PMM2 in E. coli | journal = European Journal of Human Genetics | volume = 7 | issue = 8 | pages = 884–8 | date = December 1999 | pmid = 10602363 | doi = 10.1038/sj.ejhg.5200398 }}
- {{cite journal | vauthors = Imtiaz F, Worthington V, Champion M, Beesley C, Charlwood J, Clayton P, Keir G, Mian N, Winchester B | title = Genotypes and phenotypes of patients in the UK with carbohydrate-deficient glycoprotein syndrome type 1 | journal = Journal of Inherited Metabolic Disease | volume = 23 | issue = 2 | pages = 162–74 | date = March 2000 | pmid = 10801058 | doi = 10.1023/A:1005669900330 }}
- {{cite journal | vauthors = Vuillaumier-Barrot S, Hetet G, Barnier A, Dupré T, Cuer M, de Lonlay P, Cormier-Daire V, Durand G, Grandchamp B, Seta N | title = Identification of four novel PMM2 mutations in congenital disorders of glycosylation (CDG) Ia French patients | journal = Journal of Medical Genetics | volume = 37 | issue = 8 | pages = 579–80 | date = August 2000 | pmid = 10922383 | pmc = 1734666 | doi = 10.1136/jmg.37.8.579 }}
- {{cite journal | vauthors = Matthijs G, Schollen E, Bjursell C, Erlandson A, Freeze H, Imtiaz F, Kjaergaard S, Martinsson T, Schwartz M, Seta N, Vuillaumier-Barrot S, Westphal V, Winchester B | title = Mutations in PMM2 that cause congenital disorders of glycosylation, type Ia (CDG-Ia) | journal = Human Mutation | volume = 16 | issue = 5 | pages = 386–94 | date = November 2000 | pmid = 11058895 | doi = 10.1002/1098-1004(200011)16:5<386::AID-HUMU2>3.0.CO;2-Y }}
- {{cite journal | vauthors = Bjursell C, Erlandson A, Nordling M, Nilsson S, Wahlström J, Stibler H, Kristiansson B, Martinsson T | title = PMM2 mutation spectrum, including 10 novel mutations, in a large CDG type 1A family material with a focus on Scandinavian families | journal = Human Mutation | volume = 16 | issue = 5 | pages = 395–400 | date = November 2000 | pmid = 11058896 | doi = 10.1002/1098-1004(200011)16:5<395::AID-HUMU3>3.0.CO;2-T }}
- {{cite journal | vauthors = Westphal V, Enns GM, McCracken MF, Freeze HH | title = Functional analysis of novel mutations in a congenital disorder of glycosylation Ia patient with mixed Asian ancestry | journal = Molecular Genetics and Metabolism | volume = 73 | issue = 1 | pages = 71–6 | date = May 2001 | pmid = 11350185 | doi = 10.1006/mgme.2001.3174 }}
- {{cite journal | vauthors = Heykants L, Schollen E, Grünewald S, Matthijs G | title = Identification and localization of two mouse phosphomannomutase genes, Pmm1 and Pmm2 | journal = Gene | volume = 270 | issue = 1–2 | pages = 53–9 | date = May 2001 | pmid = 11404002 | doi = 10.1016/S0378-1119(01)00481-4 }}
{{refend}}{{PDB Gallery|geneid=5373}} External links - [https://www.ncbi.nlm.nih.gov/books/NBK1332/ GeneReviews/NCBI/NIH/UW entry on Congenital Disorders of Glycosylation Overview]
- [https://www.ncbi.nlm.nih.gov/books/NBK1110/ GeneReviews/NIH/NCBI/UW entry on PMM2-CDG (CDG-Ia)Carbohydrate-Deficient Glycoprotein Syndrome, Type 1a; Congenital Disorder of Glycosylation Type 1a; Jaeken Syndrome]
- [https://www.ncbi.nlm.nih.gov/omim/212065,601785 OMIM entries on Carbohydrate-Deficient Glycoprotein Syndrome, Type 1a; Congenital Disorder of Glycosylation Type 1a; Jaeken Syndrome]
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