DHRS3

Chr 1AR

dehydrogenase/reductase 3

Also known as: CNALPTC1, CRSS, DD83.1, RDH17, Rsdr1, SDR1, SDR16C1, retSDR1

Predicted to enable all-trans-retinol dehydrogenase (NAD+) activity. Predicted to be involved in regulation of retinoic acid receptor signaling pathway and retinoid metabolic process. Predicted to act upstream of or within several processes, including heart morphogenesis; negative regulation of retinoic acid receptor signaling pathway; and regulation of ossification. Predicted to be located in endoplasmic reticulum membrane and photoreceptor outer segment membrane. Predicted to be active in lipid droplet. [provided by Alliance of Genome Resources, Jul 2025]

OMIMResearchGenerating clinical summary…
MultiplemechanismARLOEUF 0.671 OMIM phenotype
Clinical SummaryDHRS3
Population Constraint (gnomAD)
Constrained for loss-of-function variants (OE-LoF 0.26) despite low pLI — interpret in context.

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint?
0.67LOEUF
pLI 0.226
Z-score 2.32
OE 0.26 (0.120.67)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
1.48Z-score
OE missense 0.70 (0.610.81)
133 obs / 190.4 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.26 (0.120.67)
00.351.4
Missense OE?0.70 (0.610.81)
00.61.4
Synonymous OE?0.92
01.21.6
LoF obs/exp: 3 / 11.5Missense obs/exp: 133 / 190.4Syn Z: 0.58
Curated Mechanism (G2P)Gene2Phenotype (DDG2P) ↗
limitedDHRS3 related craniosynostosisOTHERAR

This gene — mechanism propensity

Predictions shown for reference only — model trained on dominant genes, not applicable to AR conditions.

DN
0.75top 25%
GOF
0.6541th %ile
LOF
0.2775th %ile

The Badonyi & Marsh prediction model was trained exclusively on dominant disease genes. Predictions are not reliable for genes with autosomal recessive inheritance and are shown at reduced opacity for reference only.

Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

DHRS3 · 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

No active trials found for this gene.

Search ClinicalTrials.gov →