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Gene : AKR1D1 Homo sapiens

Name  ? aldo-keto reductase family 1 member D1 Cytological Location  7q33
Brief Description  aldo-keto reductase family 1 member D1
description  The enzyme encoded by this gene is responsible for the catalysis of the 5-beta-reduction of bile acid intermediates and steroid hormones carrying a delta(4)-3-one structure. Deficiency of this enzyme may contribute to hepatic dysfunction. Three transcript variants encoding different isoforms have been found for this gene. Other variants may be present, but their full-length natures have not been determined yet. [provided by RefSeq, Jul 2010]
  • synonyms:
  • NM_005989,
  • HGNC:388,
  • AKR1D1,
  • CBAS2,
  • 3o5bred,
  • uc064ijt.1,
  • OTTHUMG00000155787,
  • Z28339,
  • delta 4-3-ketosteroid-5-beta-reductase,
  • SRD5B1,
  • SRD5B1,
  • aldo-keto reductase family 1, member D1 (delta 4-3-ketosteroid-5-beta-reductase)
  • identifiers:
  • 6718,
  • ENSG00000122787,
  • AKR1D1

Genome feature

Region: gene ? Length: 41873  
Location: 7:138076432-138118304 Cyto location: 7q33


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Function

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Gene --> GO terms.

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Genomics

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Proteins

Gene --> Proteins.

SNPs

Gene Report --> GWAS hit

Disease

1 Diseases

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

Gene --> Alleles and Disease (clinVar data)

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Homology

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Interactions

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Expression

Gene(s) --> Significant SNPs (GTex data)

Gene Ontology

Gene --> GO terms.

 

Other

28 SN Ps

5 Cross References

19 Data Sets

26 Homologues

0 Located Features

90 Rna Seq Results