DHRS11
Chr 17dehydrogenase/reductase 11
Also known as: ARPG836, SDR24C1, spDHRS11
The protein encoded by DHRS11 is a steroid dehydrogenase that catalyzes the conversion of steroid hormones, including the reduction of androgen precursors to potent androgens like 11-ketotestosterone and the interconversion of estrone/estradiol. Mutations cause autosomal recessive 46,XY differences of sex development with undervirilization due to impaired androgen biosynthesis. This gene is highly constrained against loss-of-function variants (pLI near 1.0), indicating that complete loss of protein function is likely deleterious.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Mild missense constraint
The highest-scoring mechanism for this gene is dominant-negative.
Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
DHRS11 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools