PGAM2 [SEP] chromosome
PGAM2
Phosphoglycerate mutase 2 (PGAM2), also known as muscle-specific phosphoglycerate mutase (PGAM-M), is a phosphoglycerate mutase that, in humans, is encoded by the "PGAM2" gene on chromosome 7.
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 deficiency, also known as glycogen storage disease X.[provided by RefSeq, Sep 2009]
Structure.
"PGAM2" is one of two genes in humans encoding a PGAM subunit, the other being "PGAM1".
Structure Gene.
The "PGAM2" gene is composed of three exons of lengths spanning 454, 180, and 202 bp, separated by two introns of