PGAM2 wt Allele

**Semantic type:** Gene or Genome

**Definition:** Human PGAM2 wild-type allele is located in the vicinity of 7p13 and is approximately 3 kb in length. This allele, which encodes phosphoglycerate mutase 2 protein, plays a role in the reversible conversion of 3-phosphoglycerate to 2-phosphoglycerate. Mutation of the gene is associated with glycogen storage disease X.

**Synonyms:** - GSD10 - PGAM-M - PGAMM - Phosphoglycerate Mutase 2 (Muscle) Gene - Phosphoglycerate Mutase 2 wt Allele - Phosphoglycerate Mutase, Muscle Gene