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Gene : GBE1 Homo sapiens

Name  ? 1,4-alpha-glucan branching enzyme 1 Cytological Location  3p12.2
Brief Description  1,4-alpha-glucan branching enzyme 1
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). [provided by RefSeq, Jul 2008]
  • synonyms:
  • glycogen branching enzyme,
  • glucan (1,4-alpha-), branching enzyme 1,
  • NM_000158,
  • uc062lqz.1,
  • HGNC:4180,
  • Andersen disease,
  • APBD,
  • OTTHUMG00000158978,
  • GSD4,
  • glycogen storage disease type IV,
  • GBE,
  • GBE1
  • identifiers:
  • 2632,
  • ENSG00000114480,
  • GBE1

Genome feature

Region: gene ? Length: 272101  
Location: 3:81489699-81761799 reverse strand Cyto location: 3p12.2


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Proteins

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SNPs

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Disease

2 Diseases

Gene (Hum OR Rat) --> Mouse Allele (Phenotype)

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Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

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Expression

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Other

265 SN Ps

5 Cross References

20 Data Sets

7 Homologues

0 Located Features

90 Rna Seq Results