Human Phosphoglucomutase 1, PGM1 ELI

Phosphoglucomutase-1 is an enzyme that in humans is encoded by the PGM1 gene.

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 blood cells, PGM2 is a major isozyme.

This gene is highly polymorphic.

Mutations in this gene cause CDG syndrome type 1t (CDG1T, formerly known as glycogen storage disease type XIV).

Alternatively spliced transcript variants encoding different isoforms have been identified in this gene.