DHCR24
Chr 1AR24-dehydrocholesterol reductase
Also known as: DCE, Nbla03646, SELADIN1, seladin-1
The protein is a FAD-dependent oxidoreductase that catalyzes the reduction of the delta-24 double bond of sterol intermediates during cholesterol biosynthesis in the endoplasmic reticulum. Mutations cause desmosterolosis, a cholesterol biosynthesis disorder that typically presents in infancy with developmental delay, seizures, and distinctive facial features. The condition follows autosomal recessive inheritance.
Definitive — sufficient evidence for diagnostic panels
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
More LoF-intolerant than ~75% of genes
Mild missense constraint
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
DHCR24 · 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
Testing the Effect of M1774 on Hard-to-Treat Refractory SPOP-mutant Prostate Cancer
ACTIVE NOT RECRUITINGImpact of Breast Cancer on Human Folliculogenesis
ACTIVE NOT RECRUITINGExternal Resources
Links to major genomics databases and tools