QuickView for GBE1 (gene)

Gene Symbol:

GBE1 Homo sapiens

Full name:

1,4-alpha-glucan branching enzyme 1

Synonyms:

APBD, GBE, GSD4, 1,4-alpha-glucan-branching enzyme, amylo-(1,4 to 1,6) transglucosidase, amylo-(1,4 to 1,6) transglycosylase, brancher enzyme, glucan (1,4-alpha-), branching enzyme 1, glycogen branching enzyme

Genomic Location:

Chr 3: 81621541-81893640

Description:

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 red...

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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).

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Orthologs:

Mus musculus ,  Rattus norvegicus ,  D. melanogaster ,  C. elegans ,  Saccharomyces cerevisiae ,  Macaca mulatta ,  Gallus gallus ,  Pan troglodytes ,  Canis lupus familiaris ,  Bos taurus ,  Danio rerio

External Links:

Entrez Gene

Transcription Factor
Binding Sites:

HNF4_01 ,  TATAAA_TATA_01 ,  GR_Q6 ,  TATA_01 ,  CTTTGT_LEF1_Q2 ,  HIF1_Q3 ,  HNF4_01_B

Cytogenetic Map:

3p12.2

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