PMM2

Phosphomannomutase 2
PDB rendering based on 2amy.
Available structures PDB 2AMY, 2Q4R
Identifiers
Symbols	PMM2; CDG1; CDG1a; CDGS; PMM 2
External IDs	OMIM: 601785 MGI: 1859214 HomoloGene: 257 GeneCards: PMM2 Gene
EC number	5.4.2.8
Gene Ontology Molecular function • phosphomannomutase activity • isomerase activity Cellular component • cytoplasm • cytosol • neuronal cell body Biological process • protein glycosylation • dolichol-linked oligosaccharide biosynthetic process • GDP-mannose biosynthetic process • protein N-linked glycosylation via asparagine • post-translational protein modification • cellular protein metabolic process Sources: Amigo / QuickGO
RNA expression pattern
More reference expression data
Orthologs
Species	Human	Mouse
Entrez	5373	54128
Ensembl	ENSG00000140650	ENSMUSG00000022711
UniProt	O15305	Q545N8
RefSeq (mRNA)	NM_000303	NM_016881.2
RefSeq (protein)	NP_000294	NP_058577.1
Location (UCSC)	Chr 16: 8.89 – 8.94 Mb	Chr 16: 8.64 – 8.66 Mb
PubMed search	[1]	[2]

Phosphomannomutase 2 is an enzyme that in humans is encoded by the PMM2 gene.

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.

Further reading

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

External links

• 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