Description: Homo sapiens retinol dehydrogenase 5 (11-cis/9-cis) (RDH5), transcript variant 2, mRNA. RefSeq Summary (NM_002905): 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]. Transcript (Including UTRs) Position: hg19 chr12:56,114,151-56,116,442 Size: 2,292 Total Exon Count: 3 Strand: + Coding Region Position: hg19 chr12:56,115,260-56,115,735 Size: 476 Coding Exon Count: 2
ID:F8VUB9_HUMAN DESCRIPTION: SubName: Full=11-cis retinol dehydrogenase; Flags: Fragment; CAUTION: The sequence shown here is derived from an Ensembl automatic analysis pipeline and should be considered as preliminary data.
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Genetic Association Studies of Complex Diseases and Disorders
Genetic Association Database (archive): RDH5 CDC HuGE Published Literature: RDH5 Positive Disease Associations: fundus albipunctatus Related Studies:
fundus albipunctatus Liden M et al. 2001, Biochemical defects in 11-cis-retinol dehydrogenase mutants associated with fundus albipunctatus., The Journal of biological chemistry. 2001 Dec;276(52):49251-7.
[PubMed 11675386]
Fundus albipunctatus Sekiya K 2003, Long-term fundus changes due to Fundus albipunctatus associated with mutations in the RDH5 gene., Archives of ophthalmology. 2003 Jul;121(7):1057-9.
[PubMed 12860821]
fundus albipunctatus Driessen CA et al. 2001, Null mutation in the human 11-cis retinol dehydrogenase gene associated with fundus albipunctatus., Ophthalmology. 2001 Aug;108(8):1479-84.
[PubMed 11470705]
On the basis of our observations, it is unlikely that mutations in the 11-cis retinol dehydrogenase gene are associated with other, possibly more severe, retinal pathologic conditions/dystrophies or syndromic diseases in which the retina is also affected.
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on F8VUB9
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
US Server
