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GBE1

glucan (1,4-alpha-), branching enzyme 1

GBE1 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).

Gene Name: glucan (1,4-alpha-), branching enzyme 1
Synonyms: GBE1, APBD, Brancher enzyme, GBE, Glycogen-branching enzyme, GSD4, Glycogen branching enzyme
Target Sequences: NM_000158 NP_000149.3 Q04446

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PLEASE NOTE

For RESEARCH USE ONLY. Intended for use by laboratory professionals. Not intended for human diagnostic or therapeutic purposes.

The data on this page has been compiled from LifeSpan internal sources, the National Center for Biotechnology Information (NCBI), and The Universal Protein Resource (UniProt).