PGAM2

Phosphoglycerate mutase (PGAM) catalyzes the reversible reaction of 3-phosphoglycerate (3-PGA) to 2-phosphoglycerate (2-PGA) in the glycolytic pathway. The PGAM is a dimeric enzyme containing, in different tissues, different proportions of a slow-migrating muscle (MM) isozyme, a fast-migrating brain (BB) isozyme, and a hybrid form (MB). This gene encodes muscle-specific PGAM subunit. Mutations in this gene cause muscle phosphoglycerate mutase eficiency, also known as glycogen storage disease X. [provided by RefSeq, Sep 2009]

Description

Phosphoglycerate mutase 2

Tissue specificity

Tissue enhanced (heart muscle, skeletal muscle, tongue)

Subcell location

Nucleoplasm, Nucleoli, Cytosol

Predicted location

Intracellular

Protein family

Disease related genes
Enzymes
Human disease related genes
Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Metabolic proteins
Plasma proteins
Potential drug targets
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Protein evidence (Kim et al 2014)

Chromosome

7 (44062727 - 44065567)

Ensembl ID

ENSG00000164708  (ver. 103.38)

Orthologs

Mouse Pgam2: ENSMUSG00000020475

UniProt

P15259

neXtProt

NX_P15259

Human splice variants
Mouse splice variants

Protein structure