AlphaFold predicted structure
RDH12 · Q96NR8
Mean pLDDT
92.4/ 100
Very high
316 residues
Confidence breakdown
- Very high(≥ 90)81%
- Confident(70–90)11%
- Low(50–70)9%
- Very low(< 50)0%
Open interactive 3D viewer
AlphaFold (Jumper et al., 2021) · CC BY 4.0
RDH12
Chr 14q24.1retinol dehydrogenase 12
- Aliases:
- FLJ30273, SDR7C2, LCA13, RP53
- MANE:
- ENST00000551171.6
Annotations refreshed 1 month ago.
Predicted protein structure
Clinical relevance (Genomics England PanelApp)
Diagnostic Grade (Green)
Retinal disorders
BOTH monoallelic and biallelic, autosomal or pseudoautosomalGlaucoma (developmental)
Ophthalmological ciliopathies
Primary ciliary disorders
Rare multisystem ciliopathy disorders
Skeletal dysplasia
Structural eye disease
BIALLELIC, autosomal or pseudoautosomalThoracic dystrophies
Disease associations (Open Targets)
Leber congenital amaurosis
0.81retinitis pigmentosa
0.75Leber congenital amaurosis 13
0.71Retinal dystrophy
0.57Cone rod dystrophy
0.50cone-rod dystrophy
0.50Macular dystrophy
0.49retinitis pigmentosa 53
0.42Posterior column ataxia - retinitis pigmentosa
0.41Abnormality of the eye
0.40
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Protein function (UniProt)
Retinol dehydrogenase 12
Retinoids dehydrogenase/reductase with a clear preference for NADP. Displays high activity towards 9-cis, 11-cis and all-trans-retinal. Shows very weak activity towards 13-cis-retinol (PubMed:12226107, PubMed:15865448). Also exhibits activity, albeit with lower affinity than for retinaldehydes, towards lipid peroxidation products (C9 aldehydes) such as 4-hydroxynonenal and trans-2-nonenal (PubMed:15865448, PubMed:19686838). May play an important function in photoreceptor cells to detoxify 4-hydroxynonenal and potentially other toxic aldehyde products resulting from lipid peroxidation (PubMed:19686838). Has no dehydrogenase activity towards steroids (PubMed:12226107, PubMed:15865448)
Diseases associated with RDH12
Curated MONDO disease pages that list RDH12 among their top associated genes.