Gene: BLOC1S1-RDH5

Alternate names for this Gene:

Gene Summary:

Gene is located in Chromosome:

Location in Chromosome :

Description of this Gene:

Type of Gene:

Gene: RDH5

Alternate names for this Gene: 9cRDH|HSD17B9|RDH1|SDR9C5

Gene Summary: 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.

Gene is located in Chromosome: 12

Location in Chromosome : 12q13.2

Description of this Gene: retinol dehydrogenase 5

Type of Gene: protein-coding

rs104894374 in BLOC1S1-RDH5;RDH5 gene and Fundus Albipunctatus PMID 22736946 2012 Novel mutations in RDH5 cause fundus albipunctatus in two consanguineous Pakistani families.

PMID 28418496 2017 Homozygosity Mapping and Genetic Analysis of Autosomal Recessive Retinal Dystrophies in 144 Consanguineous Pakistani Families.

PMID 25820994 2015 Fundus albipunctatus: review of the literature and report of a novel RDH5 gene mutation affecting the invariant tyrosine (p.Tyr175Phe).

PMID 10369264 1999 Mutations in the gene encoding 11-cis retinol dehydrogenase cause delayed dark adaptation and fundus albipunctatus.

PMID 10617778 1999 11-cis retinol dehydrogenase mutations as a major cause of the congenital night-blindness disorder known as fundus albipunctatus.

PMID 11470705 2001 Null mutation in the human 11-cis retinol dehydrogenase gene associated with fundus albipunctatus.

PMID 24603341 2014 exomeSuite: Whole exome sequence variant filtering tool for rapid identification of putative disease causing SNVs/indels.

PMID 12967826 2003 A novel RDH5 gene mutation in a patient with fundus albipunctatus presenting with macular atrophy and fading white dots.

PMID 11078852 2000 A novel compound heterozygous mutation in the RDH5 gene in a patient with fundus albipunctatus.

PMID 11675386 2001 Biochemical defects in 11-cis-retinol dehydrogenase mutants associated with fundus albipunctatus.

PMID 11053296 2000 Mutations in the 11-cis retinol dehydrogenase gene in Japanese patients with Fundus albipunctatus.

PMID 12788147 2003 Macular dystrophy in a Japanese family with fundus albipunctatus.

PMID 11053295 2000 A high association with cone dystrophy in Fundus albipunctatus caused by mutations of the RDH5 gene.

PMID 21529959 2011 Phenotypic variability in RDH5 retinopathy (Fundus Albipunctatus).

PMID 20829743 2011 Lack of autofluorescence in fundus albipunctatus associated with mutations in RDH5.

PMID 22669287 2012 Multimodal fundus imaging in fundus albipunctatus with RDH5 mutation: a newly identified compound heterozygous mutation and review of the literature.