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MGP002342

Record overview

MGPD IDMGP002342
Gene ID5373
SpeciesHomo sapiens (Human)
Gene Namephosphomannomutase 2
Gene Symbol PMM2
SynonymsPMI; CDG1; CDGS; PMI1; CDG1a; PMM 2;
Alternate namesphosphomannomutase 2; phosphomannose isomerase 1;
Chromosome16
Map Location16p13
EC Number5.4.2.8;
SummaryThe protein encoded by this gene catalyzes the isomerization of mannose 6-phosphate to mannose 1-phosphate, which is a precursor to GDP-mannose necessary for the synthesis of dolichol-P-oligosaccharides. Mutations in this gene have been shown to cause defects in glycoprotein biosynthesis, which manifests as carbohydrate-deficient glycoprotein syndrome type I. [provided by RefSeq, Jul 2008]
OrthologsView orthologs and multiple alignments for PMM2

Proteins

phosphomannomutase 2
Refseq ID:NP_000294
Protein GI:4557839
UniProt ID:O15305
mRNA ID:NM_000303
Length:246
RefSeq Status:
MAAPGPALCLFDVDGTLTAPRQKITKEMDDFLQKLRQKIKIGVVGGSDFEKVQEQLGNDVVEKYDYVFPENGLVAYKDGKLLCRQNIQSHLGEALIQDLI
NYCLSYIAKIKLPKKRGTFIEFRNGMLNVSPIGRSCSQEERIEFYELDKKENIRQKFVADLRKEFAGKGLTFSIGGQISFDVFPDGWDKRYCLRHVENDG
YKTIYFFGDKTMPGGNDHEIFTDPRTMGYSVTAPEDTRRICELLFS
 
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