QuickView for RDH5 (gene)

Gene Symbol:

RDH5 Homo sapiens

Full name:

retinol dehydrogenase 5

Synonyms:

9cRDH, HSD17B9, RDH1, SDR9C5, 11-cis retinol dehydrogenase, 11-cis RDH, 11-cis RoDH, 9-cis retinol dehydrogenase, 9-cis-retinol specific dehydrogenase, retinol dehydrogenase 1, retinol dehydrogenase 5 (11-cis and 9-cis), retinol dehydrogenase 5 (11-cis/9-cis), short chain dehydrogenase/reductase family 9C member 5

Genomic Location:

Chr 12: 54400488-54404756

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 nig...

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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.

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Orthologs:

Mus musculus ,  Rattus norvegicus ,  Macaca mulatta ,  Bos taurus ,  Gallus gallus ,  Pan troglodytes ,  Canis lupus familiaris ,  Danio rerio

External Links:

Entrez Gene

Transcription Factor
Binding Sites:

AML1_01 ,  OSF2_Q6 ,  RP58_01 ,  NRF2_Q4 ,  AML1_Q6

Cytogenetic Map:

12q13.2

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