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Gene Protein Transcript Promoter Expression GO/PPI PubMed Cross reference

Gene information for GBE1 (Homo sapiens)
(Information is obtained from NCBI Gene database)
Entrez gene ID2632
Official gene symbolGBE1
Full nameglucan (1,4-alpha-), branching enzyme 1
Aliases,GBE,
Gene summaryThe 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]
LocationChromosome: 3   Locus: 3p12.3
Gene position81810950 - 81538850  Map Viewer
Gene orientationminus
Gene size272101 bp
Gene sequence
OMIM ID607839