AlphaFold predicted structure
RDH5 · Q92781
Mean pLDDT
96.1/ 100
Very high
318 residues
Confidence breakdown
- Very high(≥ 90)94%
- Confident(70–90)6%
- Low(50–70)0%
- Very low(< 50)0%
Open interactive 3D viewer
AlphaFold (Jumper et al., 2021) · CC BY 4.0
RDH5
Chr 12q13.2retinol dehydrogenase 5
- Aliases:
- HSD17B9, SDR9C5
- MANE:
- ENST00000257895.10
Annotations refreshed 1 month ago.
Predicted protein structure
Clinical relevance (Genomics England PanelApp)
Diagnostic Grade (Green)
Retinal disorders
BIALLELIC, autosomal or pseudoautosomalGlaucoma (developmental)
Structural eye disease
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Disease associations (Open Targets)
fundus albipunctatus
0.84Retinal dystrophy
0.51myopia
0.46age-related macular degeneration
0.44retinitis punctata albescens
0.44congenital stationary night blindness
0.43Hypermetropia
0.40refractive error
0.40retinal disorder
0.39COVID-19
0.39
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Protein function (UniProt)
Retinol dehydrogenase 5
Catalyzes the oxidation of cis-isomers of retinol, including 11-cis-, 9-cis-, and 13-cis-retinol in an NAD-dependent manner (PubMed:10588954, PubMed:11675386, PubMed:9115228, PubMed:9931293). Has no activity towards all-trans retinal (By similarity). Plays a significant role in 11-cis retinol oxidation in the retinal pigment epithelium cells (RPE). Also recognizes steroids (androsterone, androstanediol) as its substrates (PubMed:29541409, PubMed:9931293)
Diseases associated with RDH5
Curated MONDO disease pages that list RDH5 among their top associated genes.