RDH16

Chr 12

retinol dehydrogenase 16

Also known as: RODH-4, RODH4, SDR9C8, hRDH-E

NCBI Gene: 8608ENSG00000139547UniProt: O75452

Enables all-trans-retinol dehydrogenase (NAD+) activity; androstan-3-alpha,17-beta-diol dehydrogenase (NAD+) activity; and androsterone dehydrogenase [NAD(P)+] activity. Involved in steroid metabolic process. Located in intracellular membrane-bounded organelle. [provided by Alliance of Genome Resources, Apr 2025]

ResearchGenerating clinical summary…
0
Active trials
6
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.59
LOEUF
DN
Mechanism· predicted
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
1.59LOEUF
pLI 0.000
Z-score 0.14
OE 0.95 (0.59–1.59)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
-0.10Z-score
OE missense 1.02 (0.91–1.15)
189 obs / 185.3 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?0.95 (0.59–1.59)
0≤0.351.4
Missense OE?1.02 (0.91–1.15)
0≤0.61.4
Synonymous OE?0.88
0≤1.21.6
LoF obs/exp: 10 / 10.5Missense obs/exp: 189 / 185.3Syn Z: 0.84

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

RDH16 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients