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]
| SKU | Test Kits | Buffer | Dye Color | Order Now |
|---|---|---|---|---|
| RDH5-20-RE | 20 (40 μL) | 200 μL |  |
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| RDH5-20-OR | 20 (40 μL) | 200 μL |  |
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| RDH5-20-GO | 20 (40 μL) | 200 μL |  |
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| RDH5-20-GR | 20 (40 μL) | 200 μL |  |
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| RDH5-20-AQ | 20 (40 μL) | 200 μL |  |
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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. [provided by RefSeq, Dec 2010]
Gene Symbol : RDH5
Gene Name : Retinol dehydrogenase 5
Chromosome : CHR 12: 557,203,66-557,247,41
Locus : 12q13.2
Alt. Genes : FAM13A
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