PMM2

PMM2

Phosphomannomutase 2, also known as PMM2, is a human gene.cite web | title = Entrez Gene: PMM2 phosphomannomutase 2| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=5373| accessdate = ]

PBB_Summary
section_title =
summary_text = 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 manifest as carbohydrate-deficient glycoprotein syndrome type I.cite web | title = Entrez Gene: PMM2 phosphomannomutase 2| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=5373| accessdate = ]

References

Further reading

PBB_Further_reading
citations =
*cite journal | author=Matthijs G, Schollen E, Heykants L, Grünewald S |title=Phosphomannomutase deficiency: the molecular basis of the classical Jaeken syndrome (CDGS type Ia). |journal=Mol. Genet. Metab. |volume=68 |issue= 2 |pages= 220–6 |year= 2000 |pmid= 10527672 |doi= 10.1006/mgme.1999.2914
*cite journal | author=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 | author=Martinsson T, Bjursell C, Stibler H, "et al." |title=Linkage of a locus for carbohydrate-deficient glycoprotein syndrome type I (CDG1) to chromosome 16p, and linkage disequilibrium to microsatellite marker D16S406. |journal=Hum. Mol. Genet. |volume=3 |issue= 11 |pages= 2037–42 |year= 1995 |pmid= 7874123 |doi=
*cite journal | author=Matthijs G, Schollen E, Pirard M, "et al." |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 |year= 1997 |pmid= 9070917 |doi= 10.1006/geno.1996.4536
*cite journal | author=Matthijs G, Schollen E, Pardon E, "et al." |title=Mutations in PMM2, a phosphomannomutase gene on chromosome 16p13, in carbohydrate-deficient glycoprotein type I syndrome (Jaeken syndrome). |journal=Nat. Genet. |volume=16 |issue= 1 |pages= 88–92 |year= 1997 |pmid= 9140401 |doi= 10.1038/ng0597-88
*cite journal | author=Schollen E, Pardon E, Heykants L, "et al." |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=Hum. Mol. Genet. |volume=7 |issue= 2 |pages= 157–64 |year= 1998 |pmid= 9425221 |doi=
*cite journal | author=Matthijs G, Schollen E, Van Schaftingen E, "et al." |title=Lack of homozygotes for the most frequent disease allele in carbohydrate-deficient glycoprotein syndrome type 1A. |journal=Am. J. Hum. Genet. |volume=62 |issue= 3 |pages= 542–50 |year= 1998 |pmid= 9497260 |doi=
*cite journal | author=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=Eur. J. Hum. Genet. |volume=6 |issue= 4 |pages= 331–6 |year= 1998 |pmid= 9781039 |doi= 10.1038/sj.ejhg.5200194
*cite journal | author=Bjursell C, Wahlström J, Berg K, "et al." |title=Detailed mapping of the phosphomannomutase 2 (PMM2) gene and mutation detection enable improved analysis for Scandinavian CDG type I families. |journal=Eur. J. Hum. Genet. |volume=6 |issue= 6 |pages= 603–11 |year= 1999 |pmid= 9887379 |doi= 10.1038/sj.ejhg.5200234
*cite journal | author=Kondo I, Mizugishi K, Yoneda Y, "et al." |title=Missense mutations in phosphomannomutase 2 gene in two Japanese families with carbohydrate-deficient glycoprotein syndrome type 1. |journal=Clin. Genet. |volume=55 |issue= 1 |pages= 50–4 |year= 1999 |pmid= 10066032 |doi=
*cite journal | author=Vuillaumier-Barrot S, Barnier A, Cuer M, "et al." |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=Hum. Mutat. |volume=14 |issue= 6 |pages= 543–4 |year= 1999 |pmid= 10571956 |doi= 10.1002/(SICI)1098-1004(199912)14:6<543::AID-HUMU17>3.0.CO;2-S |doilabel=10.1002/(SICI)1098-1004(199912)14:6543::AID-HUMU173.0.CO;2-S
*cite journal | author=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=Eur. J. Hum. Genet. |volume=7 |issue= 8 |pages= 884–8 |year= 2000 |pmid= 10602363 |doi= 10.1038/sj.ejhg.5200398
*cite journal | author=Imtiaz F, Worthington V, Champion M, "et al." |title=Genotypes and phenotypes of patients in the UK with carbohydrate-deficient glycoprotein syndrome type 1. |journal=J. Inherit. Metab. Dis. |volume=23 |issue= 2 |pages= 162–74 |year= 2000 |pmid= 10801058 |doi=
*cite journal | author=Vuillaumier-Barrot S, Hetet G, Barnier A, "et al." |title=Identification of four novel PMM2 mutations in congenital disorders of glycosylation (CDG) Ia French patients. |journal=J. Med. Genet. |volume=37 |issue= 8 |pages= 579–80 |year= 2000 |pmid= 10922383 |doi=
*cite journal | author=Matthijs G, Schollen E, Bjursell C, "et al." |title=Mutations in PMM2 that cause congenital disorders of glycosylation, type Ia (CDG-Ia). |journal=Hum. Mutat. |volume=16 |issue= 5 |pages= 386–94 |year= 2000 |pmid= 11058895 |doi= 10.1002/1098-1004(200011)16:5<386::AID-HUMU2>3.0.CO;2-Y |doilabel=10.1002/1098-1004(200011)16:5386::AID-HUMU23.0.CO;2-Y
*cite journal | author=Bjursell C, Erlandson A, Nordling M, "et al." |title=PMM2 mutation spectrum, including 10 novel mutations, in a large CDG type 1A family material with a focus on Scandinavian families. |journal=Hum. Mutat. |volume=16 |issue= 5 |pages= 395–400 |year= 2000 |pmid= 11058896 |doi= 10.1002/1098-1004(200011)16:5<395::AID-HUMU3>3.0.CO;2-T |doilabel=10.1002/1098-1004(200011)16:5395::AID-HUMU33.0.CO;2-T
*cite journal | author=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=Mol. Genet. Metab. |volume=73 |issue= 1 |pages= 71–6 |year= 2001 |pmid= 11350185 |doi= 10.1006/mgme.2001.3174
*cite journal | author=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 |year= 2001 |pmid= 11404002 |doi=

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