Recombinant Human Phosphoglucomutase-1 (PGM1)

Uniprot Id

P36871

Target Species

Human

Target Name

PGM1

Target Full Name

Phosphoglucomutase-1

Target Function

This enzyme participates in both the breakdown and synthesis of glucose.

Target Involvement

Congenital disorder of glycosylation 1T (CDG1T)

Target Subcellular Location

[Isoform 1]: Cytoplasm.

Target Protein Families

Phosphohexose mutase family

Target Research Area

Metabolism

Target Synonyms

CDG1T; Glucose phosphomutase 1; GSD14; OTTHUMP00000010519; OTTHUMP00000010520; PGM 1; PGM1; PGM1_HUMAN; Phosphoglucomutase 1; Phosphoglucomutase-1; Phosphoglucomutase1

Target Background

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.