RDH14 Chromosome 2
Retinol dehydrogenase 14
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What This Gene Does
Enables all-trans-retinol dehydrogenase (NADP+) activity. Involved in osteoblast differentiation. Located in cytosol; endoplasmic reticulum; and nucleoplasm. [provided by Alliance of Genome Resources, Jul 2025]
Gene Info
Gene Group
Short chain dehydrogenase/reductase superfamily
Locus Type
gene with protein product
Location
2p24.2
Ensembl
ENSG00000240857
Associated Conditions (2)
Intellectual disability
Cerebellar atrophy
Key Variants
All Variants (1)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS779464218 | Health Risk | Likely pathogenic | Intellectual disability, Cerebellar atrophy, Intellectual disability |