RDH8 (retinol dehydrogenase 8)

2014-11-01  

Identity

HGNC
LOCATION
19p13.2
LOCUSID
ALIAS
PRRDH,SDR28C2
FUSION GENES

Other Information

Locus ID:

NCBI: 50700
MIM: 608575
HGNC: 14423
Ensembl: ENSG00000080511

Variants:

dbSNP: 50700
ClinVar: 50700
TCGA: ENSG00000080511
COSMIC: RDH8

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000080511ENST00000587782K7EKT5
ENSG00000080511ENST00000591589Q9NYR8
ENSG00000080511ENST00000591589K7ELF7
ENSG00000080511ENST00000651512K7ELF7

Expression (GTEx)

0
1
2
3
4
5

Pathways

PathwaySourceExternal ID
Retinol metabolismKEGGko00830
Retinol metabolismKEGGhsa00830
Metabolic pathwaysKEGGhsa01100
Signal TransductionREACTOMER-HSA-162582
Visual phototransductionREACTOMER-HSA-2187338
The canonical retinoid cycle in rods (twilight vision)REACTOMER-HSA-2453902

References

Pubmed IDYearTitleCitations
157557272005Role of photoreceptor-specific retinol dehydrogenase in the retinoid cycle in vivo.92
222207222012Retinal cone and rod photoreceptor cells exhibit differential susceptibility to light-induced damage.15
210430512010Investigation of the association between all-trans-retinol dehydrogenase (RDH8) polymorphisms and high myopia in Chinese.2
210430512010Investigation of the association between all-trans-retinol dehydrogenase (RDH8) polymorphisms and high myopia in Chinese.2

Citation

Dessen P

RDH8 (retinol dehydrogenase 8)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/72566/rdh8-(retinol-dehydrogenase-8)