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Gene : GYG1 Homo sapiens

Name  ? glycogenin 1 Cytological Location  3q24
Brief Description  glycogenin 1
Description  This gene encodes a member of the glycogenin family. Glycogenin is a glycosyltransferase that catalyzes the formation of a short glucose polymer from uridine diphosphate glucose in an autoglucosylation reaction. This reaction is followed by elongation and branching of the polymer, catalyzed by glycogen synthase and branching enzyme, to form glycogen. This gene is expressed in muscle and other tissues. Mutations in this gene result in glycogen storage disease XV. This gene has pseudogenes on chromosomes 1, 8 and 13 respectively. Alternatively spliced transcript variants encoding different isoforms have been identified.[provided by RefSeq, Sep 2010]
  • synonyms:
  • GYG1,
  • HGNC:4699,
  • GSD15,
  • glycogenin,
  • GYG,
  • uc003ewo.4,
  • GYG,
  • glycogenin glucosyltransferase,
  • AF087942,
  • OTTHUMG00000159533,
  • NM_004130
  • identifiers:
  • 2992,
  • ENSG00000163754,
  • GYG1

Genome feature

Region: gene ? Length: 40368  
Location: 3:148991408-149031775 Cyto location: 3q24


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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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Expression

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3753 SN Ps

5 Cross References

19 Data Sets

5 Homologues

0 Located Features

97 Rna Seq Results