PFKM wt Allele

**Semantic type:** Gene or Genome

**Definition:** Human PFKM wild-type allele is located in the vicinity of 12q13.11 and is approximately 41 kb in length. This allele, which encodes 6-phosphofructokinase, muscle type protein, plays a role in muscle cell metabolism of glucose. Mutation of the gene is associated with glycogen storage disease type 7.

**Synonyms:** - GSD7 - PFK-1 - PFK1 - PFKA - PFKX - Phosphofructokinase, Muscle wt Allele - Phosphofructokinase, Polypeptide X Gene