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Sequence of this protein is as follows: MAAPGPALCL FDVDGTLTAP RQKITKEMDD FLQKLRQKIK IGVVGGSDFE KVQEQLGNDV VEKYDYVFPE NGLVAYKDGK LLCRQNIQSH LGEALIQDLI NYCLSYIAKI KLPKKRGTFI EFRNGMLNVS PIGRSCSQEE RIEFYELDKK ENIRQKFVAD LRKEFAGKGL TFSIGGQISF DVFPDGWDKR YCLRHVENDG YKTIYFFGDK TMPGGNDHEI FTDPRTMGYS VTAPEDTRRI CELLFS
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.
仅用于科研。不用于诊断过程。未经明确授权不得转售。
蛋白别名: mannose-6-phosphate isomerase; Phosphomannomutase 2; phosphomannose isomerase 1; PMM 2
基因别名: CDG1; CDG1a; CDGS; PMI; PMI1; PMM 2; PMM2
UniProt ID: (Human) O15305
Entrez Gene ID: (Human) 5373