GBE1 wt Allele

**Semantic type:** Gene or Genome

**Definition:** Human GBE1 wild-type allele is located in the vicinity of 3p12.2 and is approximately 272 kb in length. This allele, which encodes 1,4-alpha-glucan-branching enzyme protein, plays a role in glycogen branching. Mutation of the gene is associated with glycogen storage disease 4 and adult polyglucosan body neuropathy.

**Synonyms:** - 1,4-Alpha-Glucan Branching Enzyme 1 wt Allele - APBD - Amylo-(1,4 to 1,6) Transglucosidase Gene - Amylo-(1,4 to 1,6) Transglycosylase Gene - Andersen Disease Gene - GBE - GSD4 - Glucan (1,4-Alpha-), Branching Enzyme 1 Gene - Glycogen Branching Enzyme Gene - Glycogen Storage Disease Type IV Gene