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Gene : AGL Homo sapiens

Name  ? amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase Cytological Location  1p21.2
Brief Description  amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase
description  This gene encodes the glycogen debrancher enzyme which is involved in glycogen degradation. This enzyme has two independent catalytic activities which occur at different sites on the protein: a 4-alpha-glucotransferase activity and a amylo-1,6-glucosidase activity. Mutations in this gene are associated with glycogen storage disease although a wide range of enzymatic and clinical variability occurs which may be due to tissue-specific alternative splicing. Alternatively spliced transcripts encoding different isoforms have been described. [provided by RefSeq, Jul 2008]
  • synonyms:
  • amylo-1, 6-glucosidase, 4-alpha-glucanotransferase,
  • AGL,
  • NM_000028,
  • glycogen debranching enzyme,
  • GDE,
  • uc001dsi.2,
  • glycogen storage disease type III,
  • BC078663,
  • OTTHUMG00000010803,
  • HGNC:321
  • identifiers:
  • 178,
  • ENSG00000162688,
  • AGL

Genome feature

Region: gene ? Length: 73947  
Location: 1:99850077-99924023 Cyto location: 1p21.2


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Disease

1 Diseases

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658 SN Ps

5 Cross References

20 Data Sets

7 Homologues

0 Located Features

90 Rna Seq Results