PMM2

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PMM2
Protein PMM2 PDB 2amy.png
Available structures
PDB Ortholog search: PDBe RCSB
Identifiers
Aliases PMM2, CDG1, CDG1a, CDGS, PMI, PMI1, PMM 2, phosphomannomutase 2
External IDs MGI: 1859214 HomoloGene: 257 GeneCards: PMM2
RNA expression pattern
PBB GE PMM2 203201 at fs.png
More reference expression data
Orthologs
Species Human Mouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_000303

NM_016881

RefSeq (protein)

NP_000294

NP_058577.1
NP_058577

Location (UCSC) Chr 16: 8.79 – 8.85 Mb Chr 16: 8.64 – 8.66 Mb
PubMed search [1] [2]
Wikidata
View/Edit Human View/Edit Mouse

Phosphomannomutase 2 is an enzyme that in humans is encoded by the PMM2 gene.[3][4]

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.[4]

References[edit]

  1. ^ "Human PubMed Reference:". 
  2. ^ "Mouse PubMed Reference:". 
  3. ^ Matthijs G, Schollen E, Pardon E, Veiga-Da-Cunha M, Jaeken J, Cassiman JJ, Van Schaftingen E (Jun 1997). "Mutations in PMM2, a phosphomannomutase gene on chromosome 16p13, in carbohydrate-deficient glycoprotein type I syndrome (Jaeken syndrome)". Nat Genet. 16 (1): 88–92. doi:10.1038/ng0597-88. PMID 9140401. 
  4. ^ a b "Entrez Gene: PMM2 phosphomannomutase 2". 

Further reading[edit]

External links[edit]