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PMM2

From Wikipedia, the free encyclopedia

PMM2
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesPMM2, CDG1, CDG1a, CDGS, PMI, PMI1, PMM 2, phosphomannomutase 2
External IDsOMIM: 601785; MGI: 1859214; HomoloGene: 257; GeneCards: PMM2; OMA:PMM2 - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_000303

NM_016881
NM_001362485

RefSeq (protein)

NP_000294

NP_058577
NP_001349414

Location (UCSC)n/aChr 16: 8.46 – 8.48 Mb
PubMed search[2][3]
Wikidata
View/Edit HumanView/Edit Mouse

Phosphomannomutase 2 is an enzyme that in humans is encoded by the PMM2 gene.[4][5]

Function

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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.[5]

References

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  1. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000022711Ensembl, 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. ^ a b "Entrez Gene: PMM2 phosphomannomutase 2".

Further reading

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