PGM1
Description
The PGM1 (phosphoglucomutase 1) is a protein-coding gene located on chromosome 1.
PGM1, encoded by the human PGM1 gene, is an isozyme of phosphoglucomutase (PGM) that plays a central role in glucose metabolism. It catalyzes the transfer of phosphate between the 1st and 6th positions of glucose, a key step in both glucose breakdown and synthesis. The PGM1 gene is highly polymorphic, with mutations leading to CDG syndrome type 1t (CDG1T). The gene is located on chromosome 1, spanning over 65 kb and containing 11 exons. It exhibits intragenic recombination, and its polymorphism is linked to variations in exons 4 and 8.
This enzyme plays a crucial role in both the breakdown (glycolysis) and synthesis (gluconeogenesis) of glucose, a vital energy source for the body.
PGM1 is also known as CDG1T, GSD14.
