Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
Immunogen sequence: MAAPGPALC LFDVDGTLTA PRQKITKEMD DFLQKLRQKI KIGVVGGSDF EKVQEQLGND VVEKYDYVFP ENGLVAYKDG KLLCRQNIQS HLGEALIQDL INYCLSYIAK IKLPKKRGTF IEFRNGMLNV SPIGRSCSQE ERIEFYELDK KENIRQKFVA DLRKEFAGKG LTFSIGGQIS FDVFPDGWDK RYCLRHVEND GYKTIYFFGD KTMPGGNDHE IFTDPRTMGY SVTAPEDTRR ICELLFS (1-246 aa encoded by BC008310)
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.
For Research Use Only. Not for use in diagnostic procedures. Not for resale without express authorization.
Protein Aliases: mannose-6-phosphate isomerase; Phosphomannomutase 2; phosphomannose isomerase 1; PMM 2
Gene Aliases: AI585868; C86848; CDG1; CDG1a; CDGS; PMI; PMI1; PMM 2; PMM2
UniProt ID: (Human) O15305, (Mouse) Q9Z2M7
Entrez Gene ID: (Human) 5373, (Mouse) 54128, (Rat) 302915
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