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Gene : RDH12 Homo sapiens

Name  ? retinol dehydrogenase 12 Cytological Location  14q24.1
Brief Description  retinol dehydrogenase 12
description  The protein encoded by this gene is an NADPH-dependent retinal reductase whose highest activity is toward 9-cis and all-trans-retinol. The encoded enzyme also plays a role in the metabolism of short-chain aldehydes but does not exhibit steroid dehydrogenase activity. Defects in this gene are a cause of Leber congenital amaurosis type 13 and Retinitis Pigmentosa 53. [provided by RefSeq, Sep 2015]
  • synonyms:
  • retinol dehydrogenase 12 (all-trans/9-cis/11-cis),
  • uc001xjz.5,
  • RP53,
  • HGNC:19977,
  • LCA13,
  • retinol dehydrogenase 12 (all-trans and 9-cis),
  • LCA13,
  • NM_152443,
  • SDR7C2,
  • RP53,
  • RDH12,
  • SDR7C2,
  • AK054835,
  • FLJ30273,
  • OTTHUMG00000170032,
  • short chain dehydrogenase/reductase family 7C, member 2
  • identifiers:
  • 145226,
  • ENSG00000139988,
  • RDH12

Genome feature

Region: gene ? Length: 32566  
Location: 14:67701886-67734451 Cyto location: 14q24.1


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Proteins

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SNPs

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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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Expression

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

Gene Ontology

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Other

212 SN Ps

5 Cross References

18 Data Sets

15 Homologues

0 Located Features

90 Rna Seq Results