PMM2
phosphomannomutase 2
Sinónimos:
CDG1, CDG1a, CDGS, PMI, PMI1, PMM 2
Especie:
Human PMM2 (5373), Mouse Pmm2 (54128), Rat Pmm2 (302915), cow PMM2 (510978), chicken PMM2 (427679), sheep PMM2 (101105711), naked mole-rat Pmm2 (101713790), dog PMM2 (490013), domestic cat PMM2 (101088803), domestic guinea pig Pmm2 (100725878)
ID UniProtKB:
ID del gen:
- Human(5373) Summary: The 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]
- Mouse(54128) phosphomannomutase 2
- Rat(302915) phosphomannomutase 2
- cow(510978) phosphomannomutase 2
- chicken(427679) phosphomannomutase 2
- sheep(101105711) phosphomannomutase 2
- naked mole-rat(101713790) phosphomannomutase 2
- dog(490013) phosphomannomutase 2
- domestic cat(101088803) phosphomannomutase 2
- domestic guinea pig(100725878) phosphomannomutase 2
- Zebrafish(368229) phosphomannomutase 2
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