PMM2

Phosphomannomutase 2 磷酸甘露糖变位酶2
PDB rendering based on 2amy.
有效结构 PDB 直系同源检索：PDBe, RCSB PDB查询代码列表 2AMY, 2Q4R
标识
代号	PMM2; CDG1; CDG1a; CDGS; PMI; PMI1; PMM 2
扩展标识	遗传学：601785 鼠基因：1859214 同源基因：257 ChEMBL: 1741162 GeneCards: PMM2 Gene
EC編號	5.4.2.8
基因本体论描述 分子功能 · phosphomannomutase activity 细胞成分 · cytosol · neuronal cell body 生物过程 · protein glycosylation · dolichol-linked oligosaccharide biosynthetic process · GDP-mannose biosynthetic process · protein N-linked glycosylation via asparagine · mannose biosynthetic process · post-translational protein modification · cellular protein metabolic process Sources: Amigo / QuickGO
RNA表达模式
更多表达数据
直系同源体
物种	人类	小鼠
Entrez	5373	54128
Ensembl	ENSG00000140650	ENSMUSG00000022711
UniProt	O15305	Q9Z2M7
mRNA序列	NM_000303	NM_016881
蛋白序列	NP_000294	NP_058577
基因位置	Chr 16: 8.88 – 8.94 Mb	Chr 16: 8.64 – 8.66 Mb
PubMed查询	[1]	[2]

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，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.

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
• GeneReviews/NIH/NCBI/UW entry on PMM2-CDG (CDG-Ia)Carbohydrate-Deficient Glycoprotein Syndrome, Type 1a; Congenital Disorder of Glycosylation Type 1a; Jaeken Syndrome
• OMIM entries on Carbohydrate-Deficient Glycoprotein Syndrome, Type 1a; Congenital Disorder of Glycosylation Type 1a; Jaeken Syndrome