NSDHL
Chr XXLDXLRNAD(P) dependent 3-beta-hydroxysteroid dehydrogenase NSDHL
Also known as: H105E3, SDR31E1, XAP104
The protein catalyzes NAD(P)(+)-dependent oxidative decarboxylation of 4-alpha-carboxysterols in post-squalene cholesterol biosynthesis and regulates endocytic trafficking of EGFR. Mutations cause CHILD syndrome and CK syndrome through X-linked dominant inheritance, with the condition typically being lethal in males due to disrupted cholesterol biosynthesis. The gene shows high constraint against loss-of-function variants, suggesting mutations predominantly cause disease through haploinsufficiency.
Moderate evidence — consider for supplementary testing
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly LoF-intolerant (top ~10% of genes)
Mild missense constraint
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
NSDHL · 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