RDH11 Chromosome 14
Retinol dehydrogenase 11
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What This Gene Does
Enables all-trans-retinol dehydrogenase (NADP+) activity. Involved in cellular detoxification of aldehyde and retinoid metabolic process. Acts upstream of or within retinal metabolic process. Located in endoplasmic reticulum membrane. [provided by Alliance of Genome Resources, Jul 2025]
Gene Info
Gene Group
Short chain dehydrogenase/reductase superfamily
Locus Type
gene with protein product
Location
14q24.1
Ensembl
ENSG00000072042
Associated Conditions (1)
Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome
Key Variants
RS1470605735
Likely pathogenic
Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome, Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome
Health Risk
RS1017775999
Pathogenic
Health Risk
RS1176694083
Pathogenic
Health Risk
RS2140082978
Pathogenic
Health Risk
RS606231423
Pathogenic
Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome, Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome
Health Risk
RS606231424
Pathogenic
Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome, Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome
Health Risk
All Variants (6)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1470605735 | Health Risk | Likely pathogenic | Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome, Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome |
| RS1017775999 | Health Risk | Pathogenic | — |
| RS1176694083 | Health Risk | Pathogenic | — |
| RS2140082978 | Health Risk | Pathogenic | — |
| RS606231423 | Health Risk | Pathogenic | Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome, Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome |
| RS606231424 | Health Risk | Pathogenic | Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome, Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome |