PGM1

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]

Full Name

Phosphoglucomutase 1

Function

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

Biological Process

Carbohydrate metabolic processManual Assertion Based On ExperimentIBA:GO_Central
GluconeogenesisManual Assertion Based On ExperimentTAS:UniProtKB
Glucose metabolic processManual Assertion Based On ExperimentIDA:UniProtKB
Glycolytic processManual Assertion Based On ExperimentTAS:UniProtKB

Cellular Location

Cytoplasm

Involvement in disease

Congenital disorder of glycosylation 1T (CDG1T):
A form of congenital disorder of glycosylation, a multisystem disorder caused by a defect in glycoprotein biosynthesis and characterized by under-glycosylated serum glycoproteins. Congenital disorders of glycosylation result in a wide variety of clinical features, such as defects in the nervous system development, psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders, and immunodeficiency. The broad spectrum of features reflects the critical role of N-glycoproteins during embryonic development, differentiation, and maintenance of cell functions.

PTM

Phosphorylation at Thr-467 by PAK1 significantly enhances enzymatic activity.