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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; OMA:PMM2 - orthologs
Gene location (Mouse) Chr. Chromosome 16 (mouse) Band 16|16 A1 Start 8,455,538 bp End 8,480,331 bp
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in body of pancreas Achilles tendon rectum bone marrow cells sural nerve thymus duodenum placenta right lobe of liver endometrium Top expressed in seminal vesicula yolk sac spermatocyte salivary gland duodenum crypt of lieberkuhn of small intestine parotid gland jejunum pyloric antrum morula More reference expression data BioGPS More reference expression data
Gene ontology Molecular function isomerase activity protein binding phosphomannomutase activity Cellular component cytoplasm soma 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 n/a ENSMUSG00000022711 UniProt O15305 Q9Z2M7 RefSeq (mRNA) NM_000303 NM_016881 NM_001362485 RefSeq (protein) NP_000294 NP_058577 NP_001349414 Location (UCSC) n/a Chr 16: 8.46 – 8.48 Mb PubMed search
Wikidata
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Phosphomannomutase 2 is an enzyme that in humans is encoded by the PMM2 gene.

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 the congenital disorder of glycosylation PMM2 deficiency.

References

1. ^ 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.
4. 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. S2CID 22959423.
5. ^ "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. S2CID 28135672.
• 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. S2CID 25561064.
• 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. S2CID 40450186.
• 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. S2CID 27783974.
• 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. S2CID 46522524.
• 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

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