Glycogen Branching Enzyme

Alternative Names

  • GBE1
  • GBE
  • 1,4-Alpha-Glucan Branching Enzyme
  • Amylo-(1,4 to 1,6) Transglucosidase
  • Amylo-(1,4 to 1,6) Transglycosylase

Associated Diseases

Glycogen Storage Disease IV
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OMIM Number

607839

NCBI Gene ID

2632

Uniprot ID

Q04446

Length

272,101 bases

No. of Exons

16

No. of isoforms

1

Protein Name

1,4-alpha-glucan-branching enzyme

Molecular Mass

80474 Da

Amino Acid Count

702

Genomic Location

chr3:81,489,699-81,761,799

Gene Map Locus
3p12.2

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 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). [From RefSeq]

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_000158.4:c.986A>GLebanonNC_000003.12:g.81642787T>CLikely Pathogenic, Uncertain SignificancePathogenicGlycogen Storage Disease IVNG_011810.1:g.124014A>G; NM_000158.4:c.986A>G; NP_000149.4:p.Tyr329Cys80338671371439
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