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RDH11

Chr 14q24.1

retinol dehydrogenase 11

Aliases:
MDT1, SDR7C1, ARSDR1
MANE:
ENST00000381346.9

Annotations refreshed 9 hours ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Moderate Evidence (Amber)

  • Bilateral congenital or childhood onset cataracts

    BIALLELIC, autosomal or pseudoautosomal
  • Intellectual disability

    BIALLELIC, autosomal or pseudoautosomal
  • Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies

    BIALLELIC, autosomal or pseudoautosomal
  • Malformations of cortical development

    BIALLELIC, autosomal or pseudoautosomal
  • Retinal disorders

    BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

  • Genetic malformation syndrome with short stature

    0.60
  • neurodegenerative disease

    0.36
  • Retinal dystrophy

    0.34
  • acute tonsillitis

    0.28
  • Neurodevelopmental delay

    0.27
  • cervical carcinoma

    0.24
  • optic atrophy

    0.11
  • open-angle glaucoma

    0.09
  • myopia

    0.09
  • degeneration of macula and posterior pole

    0.08

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Retinol dehydrogenase 11

Retinol dehydrogenase with a clear preference for NADP. Displays high activity towards 9-cis, 11-cis and all-trans-retinol, and to a lesser extent on 13-cis-retinol (PubMed:12036956, PubMed:12226107, PubMed:29410696). Exhibits a low reductive activity towards unsaturated medium-chain aldehydes such as cis -6-nonenal and no activity toward nonanal or 4-hydroxy-nonenal (PubMed:15865448). Has no dehydrogenase activity towards steroid (PubMed:12036956, PubMed:12226107)

Data sources: HGNC (CC BY 4.0), AlphaFold (CC BY 4.0, Jumper et al. Nature 2021), Genomics England PanelApp (CC BY 4.0), ClinGen, Open Targets (CC0), UniProt.

Not for sole clinical decision-making. Always verify against primary sources.