PMM2

Phosphomannomutase 2 is an enzyme that in humans is encoded by the PMM2 gene.[5][6]

PMM2
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 2AMY, 2Q4R
Identifiers
Aliases	PMM2, CDG1, CDG1a, CDGS, PMI, PMI1, PMM 2, phosphomannomutase 2
External IDs	OMIM: 601785 MGI: 1859214 HomoloGene: 257 GeneCards: PMM2
Gene location (Human) Chr. Chromosome 16 (human)[1] Band 16p13.2 Start 8,788,823 bp[1] End 8,849,325 bp[1]
Gene location (Mouse) Chr. Chromosome 16 (mouse)[2] Band 16|16 A1 Start 8,637,674 bp[2] End 8,662,467 bp[2]
RNA expression pattern More reference expression data
Gene ontology Molecular function • isomerase activity • GO:0001948 protein binding • phosphomannomutase activity Cellular component • cytoplasm • neuronal cell body • cell nucleus • cytosol Biological process • protein glycosylation • GDP-mannose biosynthetic process • mannose metabolic process • protein N-linked glycosylation • protein targeting to ER Sources:Amigo / QuickGO
Orthologs
Species	Human	Mouse
Entrez	5373	54128
Ensembl	ENSG00000140650	ENSMUSG00000022711
UniProt	O15305	Q9Z2M7
RefSeq (mRNA)	NM_000303	NM_016881 NM_001362485
RefSeq (protein)	NP_000294	NP_058577 NP_001349414
Location (UCSC)	Chr 16: 8.79 – 8.85 Mb	Chr 16: 8.64 – 8.66 Mb
PubMed search	[3]	[4]
Wikidata
View/Edit Human View/Edit Mouse

Function

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 which manifest as congenital disorder of glycosylation type Ia.[6]

References

1. GRCh38: Ensembl release 89: ENSG00000140650 - Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000022711 - Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. Matthijs G, Schollen E, Pardon E, Veiga-Da-Cunha M, Jaeken J, Cassiman JJ, Van Schaftingen E (May 1997). "Mutations in PMM2, a phosphomannomutase gene on chromosome 16p13, in carbohydrate-deficient glycoprotein type I syndrome (Jaeken syndrome)". Nature Genetics. 16 (1): 88–92. doi:10.1038/ng0597-88. PMID 9140401.
6. "Entrez Gene: PMM2 phosphomannomutase 2".

Further reading

• Matthijs G, Schollen E, Heykants L, Grünewald S (October 1999). "Phosphomannomutase deficiency: the molecular basis of the classical Jaeken syndrome (CDGS type Ia)". Molecular Genetics and Metabolism. 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, Kristiansson B, Skovby F, Jaeken J, Blennow G, Strömme P, Hanefeld F, Wahlström J (November 1994). "Linkage of a locus for carbohydrate-deficient glycoprotein syndrome type I (CDG1) to chromosome 16p, and linkage disequilibrium to microsatellite marker D16S406". Human Molecular Genetics. 3 (11): 2037–42. PMID 7874123.
• Matthijs G, Schollen E, Pirard M, Budarf ML, Van Schaftingen E, Cassiman JJ (February 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, Renard J, Doggett NA, Callen DF, Cassiman JJ, Matthijs G (February 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". Human Molecular Genetics. 7 (2): 157–64. doi:10.1093/hmg/7.2.157. PMID 9425221.
• Matthijs G, Schollen E, Van Schaftingen E, Cassiman JJ, Jaeken J (March 1998). "Lack of homozygotes for the most frequent disease allele in carbohydrate-deficient glycoprotein syndrome type 1A". American Journal of Human Genetics. 62 (3): 542–50. doi:10.1086/301763. PMC 1376957. PMID 9497260.
• 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". European Journal of Human Genetics. 6 (4): 331–6. doi:10.1038/sj.ejhg.5200194. PMID 9781039.
• Bjursell C, Wahlström J, Berg K, Stibler H, Kristiansson B, Matthijs G, Martinsson T (1999). "Detailed mapping of the phosphomannomutase 2 (PMM2) gene and mutation detection enable improved analysis for Scandinavian CDG type I families". European Journal of Human Genetics. 6 (6): 603–11. doi:10.1038/sj.ejhg.5200234. PMID 9887379.
• Kondo I, Mizugishi K, Yoneda Y, Hashimoto T, Kuwajima K, Yuasa I, Shigemoto K, Kuroda Y (January 1999). "Missense mutations in phosphomannomutase 2 gene in two Japanese families with carbohydrate-deficient glycoprotein syndrome type 1". Clinical Genetics. 55 (1): 50–4. doi:10.1034/j.1399-0004.1999.550109.x. PMID 10066032.
• Vuillaumier-Barrot S, Barnier A, Cuer M, Durand G, Grandchamp B, Seta N (December 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". Human Mutation. 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 (December 1999). "Carbohydrate-deficient glycoprotein syndrome type 1A: expression and characterisation of wild type and mutant PMM2 in E. coli". European Journal of Human Genetics. 7 (8): 884–8. doi:10.1038/sj.ejhg.5200398. PMID 10602363.
• Imtiaz F, Worthington V, Champion M, Beesley C, Charlwood J, Clayton P, Keir G, Mian N, Winchester B (March 2000). "Genotypes and phenotypes of patients in the UK with carbohydrate-deficient glycoprotein syndrome type 1". Journal of Inherited Metabolic Disease. 23 (2): 162–74. doi:10.1023/A:1005669900330. PMID 10801058.
• Vuillaumier-Barrot S, Hetet G, Barnier A, Dupré T, Cuer M, de Lonlay P, Cormier-Daire V, Durand G, Grandchamp B, Seta N (August 2000). "Identification of four novel PMM2 mutations in congenital disorders of glycosylation (CDG) Ia French patients". Journal of Medical Genetics. 37 (8): 579–80. doi:10.1136/jmg.37.8.579. PMC 1734666. PMID 10922383.
• Matthijs G, Schollen E, Bjursell C, Erlandson A, Freeze H, Imtiaz F, Kjaergaard S, Martinsson T, Schwartz M, Seta N, Vuillaumier-Barrot S, Westphal V, Winchester B (November 2000). "Mutations in PMM2 that cause congenital disorders of glycosylation, type Ia (CDG-Ia)". Human Mutation. 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, Nilsson S, Wahlström J, Stibler H, Kristiansson B, Martinsson T (November 2000). "PMM2 mutation spectrum, including 10 novel mutations, in a large CDG type 1A family material with a focus on Scandinavian families". Human Mutation. 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 (May 2001). "Functional analysis of novel mutations in a congenital disorder of glycosylation Ia patient with mixed Asian ancestry". Molecular Genetics and Metabolism. 73 (1): 71–6. doi:10.1006/mgme.2001.3174. PMID 11350185.
• Heykants L, Schollen E, Grünewald S, Matthijs G (May 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