PGM1
phosphoglucomutase 1
Sinónimos:
CDG1T, GSD14
Especie:
Human PGM1 (5236), Mouse Pgm1 (66681), Rat Pgm1 (24645), naked mole-rat Pgm1 (101711743), chicken PGM1 (424691), dog PGM1 (479545), domestic guinea pig Pgm1 (100721478), sheep PGM1 (101109225), cow PGM1 (534402), Zebrafish pgm1 (394000) ...Más
ID UniProtKB:
ID del gen:
- Human(5236) Summary: The protein encoded by this gene is an isozyme of phosphoglucomutase (PGM) and belongs to the phosphohexose mutase family. There are several PGM isozymes, which are encoded by different genes and catalyze the transfer of phosphate between the 1 and 6 positions of glucose. In most cell types, this PGM isozyme is predominant, representing about 90% of total PGM activity. In red cells, PGM2 is a major isozyme. This gene is highly polymorphic. Mutations in this gene cause glycogen storage disease type 14. Alternativley spliced transcript variants encoding different isoforms have been identified in this gene.[provided by RefSeq, Mar 2010]
- Mouse(66681) phosphoglucomutase 1
- Rat(24645) phosphoglucomutase 1
- naked mole-rat(101711743) phosphoglucomutase 1
- chicken(424691) phosphoglucomutase 1
- dog(479545) phosphoglucomutase 1
- domestic guinea pig(100721478) phosphoglucomutase 1
- sheep(101109225) phosphoglucomutase 1
- cow(534402) phosphoglucomutase 1
- Zebrafish(394000) phosphoglucomutase 1
- domestic cat(101083353) phosphoglucomutase 1
- Domestic Rabbit(100009155) phosphoglucomutase 1
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