GBE1, Official Symbol GBE1provided by HGNC Official Full Name 1,4-alpha-glucan branching enzyme 1provided by HGNC Primary source HGNC:HGNC:4180 See related Ensembl:ENSG00000114480 MIM:607839; AllianceGenome:HGNC:4180 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as GBE; APBD; GSD4 Summary 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] Expression Ubiquitous expression in fat (RPKM 48.8), adrenal (RPKM 29.5) and 24 other tissues See more Orthologs mouse all