Gene: PGM1

Alternate names for this Gene: CDG1T|GSD14

Gene 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.

Gene is located in Chromosome: 1

Location in Chromosome : 1p31.3

Description of this Gene: phosphoglucomutase 1

Type of Gene: protein-coding

rs11208264 in PGM1 gene and Alcohol consumption PMID 21665994 2011 Genome-wide association study identifies two loci strongly affecting transferrin glycosylation.

rs1126728 in PGM1 gene and Blood Protein Measurement PMID 29875488 2018 Genomic atlas of the human plasma proteome.

rs2269241 in PGM1 gene and Diabetes Mellitus, Insulin-Dependent PMID 19430480 2009 Genome-wide association study and meta-analysis find that over 40 loci affect risk of type 1 diabetes.

rs121918371 in PGM1 gene and Glycogen Storage Disease XIV PMID 25288802 2014 Compromised catalysis and potential folding defects in in vitro studies of missense mutants associated with hereditary phosphoglucomutase 1 deficiency.

PMID 24499211 2014 Multiple phenotypes in phosphoglucomutase 1 deficiency.

PMID 22492991 2012 Gene identification in the congenital disorders of glycosylation type I by whole-exome sequencing.

PMID 19625727 2009 Muscle glycogenosis due to phosphoglucomutase 1 deficiency.

PMID 26972339 2016 Induced Structural Disorder as a Molecular Mechanism for Enzyme Dysfunction in Phosphoglucomutase 1 Deficiency.

PMID 22976764 2013 A novel congenital disorder of glycosylation type without central nervous system involvement caused by mutations in the phosphoglucomutase 1 gene.