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Gene : GLUD1 Homo sapiens

Name  ? glutamate dehydrogenase 1 Cytological Location  10q23.2
Brief Description  glutamate dehydrogenase 1
Description  This gene encodes glutamate dehydrogenase, which is a mitochondrial matrix enzyme that catalyzes the oxidative deamination of glutamate to alpha-ketoglutarate and ammonia. This enzyme has an important role in regulating amino acid-induced insulin secretion. It is allosterically activated by ADP and inhibited by GTP and ATP. Activating mutations in this gene are a common cause of congenital hyperinsulinism. Alternative splicing of this gene results in multiple transcript variants. The related glutamate dehydrogenase 2 gene on the human X-chromosome originated from this gene via retrotransposition and encodes a soluble form of glutamate dehydrogenase. Related pseudogenes have been identified on chromosomes 10, 18 and X. [provided by RefSeq, Jan 2016]
  • synonyms:
  • GDH,
  • GLUD,
  • uc001keh.4,
  • GLUD,
  • HGNC:4335,
  • GLUD1,
  • OTTHUMG00000018666,
  • GDH,
  • M20867,
  • GDH1,
  • NM_005271
  • identifiers:
  • 2746,
  • ENSG00000148672,
  • GLUD1

Genome feature

Region: gene ? Length: 44642  
Location: 10:87050202-87094843 reverse strand Cyto location: 10q23.2


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Function

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Genomics

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Proteins

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SNPs

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Disease

1 Diseases

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

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Gene -> HPO annotation (Human Phenotype Ontology)

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Expression

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Other

3753 SN Ps

5 Cross References

20 Data Sets

7 Homologues

0 Located Features

97 Rna Seq Results