PMM2

PMM2
已知的结构 PDB 直系同源搜索：PDBe RCSB PDBID列表 2AMY、2Q4R
标识符
代号	PMM2
扩展标识	OMIM：601785；MGI：1859214；HomoloGene：257；GeneCards：PMM2；OMA：PMM2 - orthologs
基因位置（小鼠） 染色体 小鼠16号染色体 基因座 16|16 A1 起始 8,455,538 bp 终止 8,480,331 bp
RNA表达模式 Bgee 人类 小鼠（直系同源） Top expressed in body of pancreas right lobe of liver Top expressed in crypt of lieberkuhn of small intestine pyloric antrum 查阅更多表达数据 BioGPS 查阅更多表达数据
基因本體 分子功能 isomerase activity 血浆蛋白结合 phosphomannomutase activity 細胞組分 細胞質 soma 细胞核 细胞质基质 生物學過程 蛋白质糖基化 GDP-mannose biosynthetic process mannose metabolic process protein N-linked glycosylation protein targeting to ER 来源：Amigo / QuickGO
直系同源 物種 人類 小鼠 Entrez 5373 54128 Ensembl 无数据 ENSMUSG00000022711 UniProt O15305 Q9Z2M7 mRNA序列 NM_000303 NM_016881 ​NM_001362485 蛋白序列 NP_000294 NP_058577 ​NP_001349414 基因位置 无数据 Chr 16：8.46 – 8.48 Mb PubMed查询
维基数据
檢視/編輯人類 檢視/編輯小鼠

磷酸甘露糖变位酶2（英語：Phosphomannomutase 2）是一种由基因 PMM2 编码的酶。

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有关。

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

• GeneReviews/NCBI/NIH/UW entry on Congenital Disorders of Glycosylation Overview（页面存档备份，存于互联网档案馆）
• GeneReviews/NIH/NCBI/UW entry on PMM2-CDG (CDG-Ia)Carbohydrate-Deficient Glycoprotein Syndrome, Type 1a; Congenital Disorder of Glycosylation Type 1a; Jaeken Syndrome（页面存档备份，存于互联网档案馆）
• OMIM entries on Carbohydrate-Deficient Glycoprotein Syndrome, Type 1a; Congenital Disorder of Glycosylation Type 1a; Jaeken Syndrome