Aliases for GBE1 Gene
External Ids for GBE1 Gene
Previous GeneCards Identifiers for GBE1 Gene
The protein encoded by this gene is a glycogen branching enzyme that catalyzes the transfer of alpha-1,4-linked glucosyl units from the outer end of a glycogen chain to an alpha-1,6 position on the same or a neighboring glycogen chain. Branching of the chains is essential to increase the solubility of the glycogen molecule and, consequently, in reducing the osmotic pressure within cells. Highest level of this enzyme are found in liver and muscle. Mutations in this gene are associated with glycogen storage disease IV (also known as Andersen's disease). [provided by RefSeq, Jul 2008]
GeneCards Summary for GBE1 Gene
GBE1 (1,4-Alpha-Glucan Branching Enzyme 1) is a Protein Coding gene. Diseases associated with GBE1 include Glycogen Storage Disease Iv and Polyglucosan Body Neuropathy, Adult Form. Among its related pathways are Galactose metabolism and Glycosaminoglycan metabolism. Gene Ontology (GO) annotations related to this gene include hydrolase activity, hydrolyzing O-glycosyl compounds and 1,4-alpha-glucan branching enzyme activity. An important paralog of this gene is SLC3A2.
UniProtKB/Swiss-Prot Summary for GBE1 Gene
Required for normal glycogen accumulation (PubMed:8463281, PubMed:26199317, PubMed:8613547). The alpha 1-6 branches of glycogen play an important role in increasing the solubility of the molecule (Probable).