PGAM2 [SEP] found in taxon
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
intolerance for strenuous exercise and persistent pigmenturia, PGAM2 activity was found to be decreased relative to other glycolytic enzymes. This PGAM2 deficiency results in a metabolic myopathy (glycogenosis type X) and has been traced to mutations in the "PGAM2" gene. Currently, four mutations have been identified from African-American, Caucasian, and Japanese families. One G-to-A transition mutation in codon 78 produced a truncated protein product, while mutations at codons 89 and 90 may have disrupted the active site and resulted in an inactive