PMM2

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Phosphomannomutase 2
Protein PMM2 PDB 2amy.png
PDB rendering based on 2amy.
Available structures
PDB Ortholog search: PDBe, RCSB
Identifiers
Symbols PMM2 ; CDG1; CDG1a; CDGS; PMI; PMI1; PMM 2
External IDs OMIM601785 MGI1859214 HomoloGene257 ChEMBL: 1741162 GeneCards: PMM2 Gene
EC number 5.4.2.8
RNA expression pattern
PBB GE PMM2 203201 at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez 5373 54128
Ensembl ENSG00000140650 ENSMUSG00000022711
UniProt O15305 Q9Z2M7
RefSeq (mRNA) NM_000303 NM_016881
RefSeq (protein) NP_000294 NP_058577
Location (UCSC) Chr 16:
8.88 – 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.[1][2]

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.[2]

References[edit]

  1. ^ 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. 
  2. ^ a b "Entrez Gene: PMM2 phosphomannomutase 2". 

Further reading[edit]

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