RDH5 gene

retinol dehydrogenase 5

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

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]

From UniProt:

Stereospecific 11-cis retinol dehydrogenase, which catalyzes the final step in the biosynthesis of 11-cis retinaldehyde, the universal chromophore of visual pigments. Also able to oxidize 9-cis-retinol and 13-cis-retinol, but not all-trans-retinol. Active in the presence of NAD as cofactor but not in the presence of NADP.

From NCBI Gene:

  • Pigmentary retinal dystrophy

From UniProt:

Fundus albipunctatus (FALBI): A form of fleck retina disease characterized by discrete uniform white dots over the entire fundus with greatest density in the mid-periphery and no macular involvement. Night blindness occurs. Inheritance can be autosomal dominant or autosomal recessive. [MIM:136880]

Cytogenetic Location: 12q13.2, which is the long (q) arm of chromosome 12 at position 13.2

Molecular Location: base pairs 55,720,367 to 55,724,742 on chromosome 12 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 12q13.2, which is the long (q) arm of chromosome 12 at position 13.2
  • 9cRDH
  • HSD17B9
  • RDH1
  • SDR9C5