PMM2

PMM2
已知的结构
PDB	直系同源搜索: PDBe RCSB
PDBID列表
	2AMY、2Q4R
识别号
别名	PMM2；, CDG1, CDG1a, CDGS, PMI, PMI1, PMM 2, phosphomannomutase 2
外部ID	OMIM：601785 MGI：1859214 HomoloGene：257 GeneCards：PMM2
基因位置（小鼠）
染色体	小鼠16号染色体
终止	8,480,331 bp
RNA表达模式
	查阅更多表达数据
基因本体
分子功能	• isomerase activity; • 血浆蛋白结合; • phosphomannomutase activity;
细胞组分	• 细胞质; • soma; • 细胞核; • 细胞质基质;
生物学过程	• 蛋白质糖基化; • GDP-mannose biosynthetic process; • mannose metabolic process; • protein N-linked glycosylation; • protein targeting to ER;
	Sources:Amigo / QuickGO
直系同源
	5373
	54128
	无数据
	ENSMUSG00000022711
	O15305
	Q9Z2M7
	NM_000303
	NM_016881; NM_001362485
	NP_000294
	NP_058577; NP_001349414
	维基数据
查看/编辑人类	查看/编辑小鼠

磷酸甘露糖变位酶2（英语：Phosphomannomutase 2）是一种由基因 PMM2 编码的酶^[4]^[5]。

PMM2是一种变位酶，将甘露糖-6-磷酸催化异构为甘露糖-1-磷酸。甘露糖-1-磷酸是鸟苷二磷酸甘露糖的前体，和先天性糖基化障碍（英语：Congenital disorder of glycosylation）有关^[5]。

参考文献

^ ^1.0 ^1.1 ^1.2 GRCm38: Ensembl release 89: ENSMUSG00000022711 - Ensembl, May 2017
^ Human PubMed Reference:. National Center for Biotechnology Information, U.S. National Library of Medicine.
^ Mouse PubMed Reference:. National Center for Biotechnology Information, U.S. National Library of Medicine.
^ Matthijs G, Schollen E, Pardon E, Veiga-Da-Cunha M, Jaeken J, Cassiman JJ, Van Schaftingen E. Mutations in PMM2, a phosphomannomutase gene on chromosome 16p13, in carbohydrate-deficient glycoprotein type I syndrome (Jaeken syndrome). Nat Genet. Jun 1997, 16 (1): 88–92. PMID 9140401. doi:10.1038/ng0597-88.
^ ^5.0 ^5.1 Entrez Gene: PMM2 phosphomannomutase 2. （原始内容存档于2010-03-07）.

延伸阅读

Matthijs G, Schollen E, Heykants L, Grünewald S. Phosphomannomutase deficiency: the molecular basis of the classical Jaeken syndrome (CDGS type Ia). Mol. Genet. Metab. 2000, 68 (2): 220–6. PMID 10527672. doi:10.1006/mgme.1999.2914.
Jaeken J, Matthijs G. Congenital disorders of glycosylation. Annual review of genomics and human genetics. 2002, 2: 129–51. PMID 11701646. doi:10.1146/annurev.genom.2.1.129.
Martinsson T; Bjursell C; Stibler H; et al. Linkage of a locus for carbohydrate-deficient glycoprotein syndrome type I (CDG1) to chromosome 16p, and linkage disequilibrium to microsatellite marker D16S406. Hum. Mol. Genet. 1995, 3 (11): 2037–42. PMID 7874123.
Matthijs G; Schollen E; Pirard M; et al. PMM (PMM1), the human homologue of SEC53 or yeast phosphomannomutase, is localized on chromosome 22q13. Genomics. 1997, 40 (1): 41–7. PMID 9070917. doi:10.1006/geno.1996.4536.
Schollen E; Pardon E; Heykants L; et al. 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. Hum. Mol. Genet. 1998, 7 (2): 157–64. PMID 9425221. doi:10.1093/hmg/7.2.157.
Matthijs G; Schollen E; Van Schaftingen E; et al. Lack of homozygotes for the most frequent disease allele in carbohydrate-deficient glycoprotein syndrome type 1A. Am. J. Hum. Genet. 1998, 62 (3): 542–50. PMC 1376957  . PMID 9497260. doi:10.1086/301763.
Kjaergaard S, Skovby F, Schwartz M. Absence of homozygosity for predominant mutations in PMM2 in Danish patients with carbohydrate-deficient glycoprotein syndrome type 1. Eur. J. Hum. Genet. 1998, 6 (4): 331–6. PMID 9781039. doi:10.1038/sj.ejhg.5200194.
Bjursell C; Wahlström J; Berg K; et al. Detailed mapping of the phosphomannomutase 2 (PMM2) gene and mutation detection enable improved analysis for Scandinavian CDG type I families. Eur. J. Hum. Genet. 1999, 6 (6): 603–11. PMID 9887379. doi:10.1038/sj.ejhg.5200234.
Kondo I; Mizugishi K; Yoneda Y; et al. Missense mutations in phosphomannomutase 2 gene in two Japanese families with carbohydrate-deficient glycoprotein syndrome type 1. Clin. Genet. 1999, 55 (1): 50–4. PMID 10066032. doi:10.1034/j.1399-0004.1999.550109.x.
Vuillaumier-Barrot S; Barnier A; Cuer M; et al. Characterization of the 415G>A (E139K) PMM2 mutation in carbohydrate-deficient glycoprotein syndrome type Ia disrupting a splicing enhancer resulting in exon 5 skipping. Hum. Mutat. 1999, 14 (6): 543–4. PMID 10571956. doi:10.1002/(SICI)1098-1004(199912)14:6<543::AID-HUMU17>3.0.CO;2-S.
Kjaergaard S, Skovby F, Schwartz M. Carbohydrate-deficient glycoprotein syndrome type 1A: expression and characterisation of wild type and mutant PMM2 in E. coli. Eur. J. Hum. Genet. 2000, 7 (8): 884–8. PMID 10602363. doi:10.1038/sj.ejhg.5200398.
Imtiaz F; Worthington V; Champion M; et al. Genotypes and phenotypes of patients in the UK with carbohydrate-deficient glycoprotein syndrome type 1. J. Inherit. Metab. Dis. 2000, 23 (2): 162–74. PMID 10801058. doi:10.1023/A:1005669900330.
Vuillaumier-Barrot S; Hetet G; Barnier A; et al. Identification of four novel PMM2 mutations in congenital disorders of glycosylation (CDG) Ia French patients. J. Med. Genet. 2000, 37 (8): 579–80. PMC 1734666  . PMID 10922383. doi:10.1136/jmg.37.8.579.
Matthijs G; Schollen E; Bjursell C; et al. Mutations in PMM2 that cause congenital disorders of glycosylation, type Ia (CDG-Ia). Hum. Mutat. 2000, 16 (5): 386–94. PMID 11058895. doi:10.1002/1098-1004(200011)16:5<386::AID-HUMU2>3.0.CO;2-Y.
Bjursell C; Erlandson A; Nordling M; et al. PMM2 mutation spectrum, including 10 novel mutations, in a large CDG type 1A family material with a focus on Scandinavian families. Hum. Mutat. 2000, 16 (5): 395–400. PMID 11058896. doi:10.1002/1098-1004(200011)16:5<395::AID-HUMU3>3.0.CO;2-T.
Westphal V, Enns GM, McCracken MF, Freeze HH. Functional analysis of novel mutations in a congenital disorder of glycosylation Ia patient with mixed Asian ancestry. Mol. Genet. Metab. 2001, 73 (1): 71–6. PMID 11350185. doi:10.1006/mgme.2001.3174.
Heykants L, Schollen E, Grünewald S, Matthijs G. Identification and localization of two mouse phosphomannomutase genes, Pmm1 and Pmm2. Gene. 2001, 270 (1–2): 53–9. PMID 11404002. doi:10.1016/S0378-1119(01)00481-4.

外部链接

[refGRCm38Ensembl-1] 1.0 ^1.1 ^1.2 GRCm38: Ensembl release 89: ENSMUSG00000022711 - Ensembl, May 2017

[2] Human PubMed Reference:. National Center for Biotechnology Information, U.S. National Library of Medicine.

[3] Mouse PubMed Reference:. National Center for Biotechnology Information, U.S. National Library of Medicine.

[pmid9140401-4] Matthijs G, Schollen E, Pardon E, Veiga-Da-Cunha M, Jaeken J, Cassiman JJ, Van Schaftingen E. Mutations in PMM2, a phosphomannomutase gene on chromosome 16p13, in carbohydrate-deficient glycoprotein type I syndrome (Jaeken syndrome). Nat Genet. Jun 1997, 16 (1): 88–92. PMID 9140401. doi:10.1038/ng0597-88.

[entrez-5] 5.0 ^5.1 Entrez Gene: PMM2 phosphomannomutase 2. （原始内容存档于2010-03-07）.

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