Preferred Label : GBE1 wt Allele;
NCIt synonyms : 1,4-Alpha-Glucan Branching Enzyme 1 wt Allele; Amylo-(1,4 to 1,6) Transglycosylase Gene; APBD; Glucan (1,4-Alpha-), Branching Enzyme 1 Gene; Glycogen Storage Disease Type IV Gene; GSD4; Amylo-(1,4 to 1,6) Transglucosidase Gene; Andersen Disease Gene; Glycogen Branching Enzyme Gene; GBE;
NCIt 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.;
GenBank Accession Number : NM_000158;
Origin ID : C217301;
OMIM relation
- gene_found_in_organism
- gene_is_element_in_pathway
- gene_plays_role_in_process
