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Gene : RDH5 Homo sapiens

Name  ? retinol dehydrogenase 5 Cytological Location  12q13.2
Brief Description  retinol dehydrogenase 5
Description  This gene encodes an enzyme belonging to the short-chain dehydrogenases/reductases (SDR) family. This retinol dehydrogenase functions to catalyze the final step in the biosynthesis of 11-cis retinaldehyde, which is the universal chromophore of visual pigments. Mutations in this gene cause autosomal recessive fundus albipunctatus, a rare form of night blindness that is characterized by a delay in the regeneration of cone and rod photopigments. Alternative splicing results in multiple transcript variants. Read-through transcription also exists between this gene and the neighboring upstream BLOC1S1 (biogenesis of lysosomal organelles complex-1, subunit 1) gene. [provided by RefSeq, Dec 2010]
  • synonyms:
  • RDH1,
  • OTTHUMG00000170126,
  • uc001shk.4,
  • SDR9C5,
  • U89717,
  • HGNC:9940,
  • RDH1,
  • HSD17B9,
  • HSD17B9,
  • RDH5,
  • SDR9C5,
  • 9cRDH,
  • retinol dehydrogenase 5 (11-cis/9-cis),
  • NM_002905,
  • short chain dehydrogenase/reductase family 9C, member 5
  • identifiers:
  • 5959,
  • ENSG00000135437,
  • RDH5

Genome feature

Region: gene ? Length: 4350  
Location: 12:55720393-55724742 Cyto location: 12q13.2


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Disease

1 Diseases

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3756 SN Ps

5 Cross References

18 Data Sets

18 Homologues

0 Located Features

97 Rna Seq Results