Identity
HGNC
LOCATION
19p13.2
LOCUSID
ALIAS
PRRDH,SDR28C2
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 50700
MIM: 608575
HGNC: 14423
Ensembl: ENSG00000080511
Variants:
dbSNP: 50700
ClinVar: 50700
TCGA: ENSG00000080511
COSMIC: RDH8
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000080511 | ENST00000587782 | K7EKT5 |
| ENSG00000080511 | ENST00000591589 | Q9NYR8 |
| ENSG00000080511 | ENST00000591589 | K7ELF7 |
| ENSG00000080511 | ENST00000651512 | K7ELF7 |
Expression (GTEx)
Pathways
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 37628710 | 2023 | A Splicing Variant in RDH8 Is Associated with Autosomal Recessive Stargardt Macular Dystrophy. | 1 |
| 37628710 | 2023 | A Splicing Variant in RDH8 Is Associated with Autosomal Recessive Stargardt Macular Dystrophy. | 1 |
| 34297769 | 2021 | Targeted capture sequencing identifies genetic variations of GRK4 and RDH8 in Han Chinese with essential hypertension in Xinjiang. | 2 |
| 34297769 | 2021 | Targeted capture sequencing identifies genetic variations of GRK4 and RDH8 in Han Chinese with essential hypertension in Xinjiang. | 2 |
| 22220722 | 2012 | Retinal cone and rod photoreceptor cells exhibit differential susceptibility to light-induced damage. | 21 |
| 22220722 | 2012 | Retinal cone and rod photoreceptor cells exhibit differential susceptibility to light-induced damage. | 21 |
| 21043051 | 2010 | Investigation of the association between all-trans-retinol dehydrogenase (RDH8) polymorphisms and high myopia in Chinese. | 3 |
| 21043051 | 2010 | Investigation of the association between all-trans-retinol dehydrogenase (RDH8) polymorphisms and high myopia in Chinese. | 3 |
| 21043051 | 2010 | Investigation of the association between all-trans-retinol dehydrogenase (RDH8) polymorphisms and high myopia in Chinese. | 3 |
| 21043051 | 2010 | Investigation of the association between all-trans-retinol dehydrogenase (RDH8) polymorphisms and high myopia in Chinese. | 3 |
| 15755727 | 2005 | Role of photoreceptor-specific retinol dehydrogenase in the retinoid cycle in vivo. | 107 |
| 15755727 | 2005 | Role of photoreceptor-specific retinol dehydrogenase in the retinoid cycle in vivo. | 107 |
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)
