CH25H

Chr 10

cholesterol 25-hydroxylase

Also known as: C25H

NCBI Gene: 9023ENSG00000138135UniProt: O95992

This is an intronless gene that is involved in cholesterol and lipid metabolism. The encoded protein is a membrane protein and contains clusters of histidine residues essential for catalytic activity. Unlike most other sterol hydroxylases, this enzyme is a member of a small family of enzymes that utilize diiron cofactors to catalyze the hydroxylation of hydrophobic substrates. [provided by RefSeq, Jul 2008]

ResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant
This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.
0
Active trials
76
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.87
LOEUF
Multiple*
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?
0.87LOEUF
pLI 0.227
Z-score 1.80
OE 0.28 (0.11–0.87)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
0.38Z-score
OE missense 0.91 (0.79–1.05)
135 obs / 148.1 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.28 (0.11–0.87)
0≤0.351.4
Missense OE?0.91 (0.79–1.05)
0≤0.61.4
Synonymous OE?0.99
0≤1.21.6
LoF obs/exp: 2 / 7.2Missense obs/exp: 135 / 148.1Syn Z: 0.03

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

CH25H · 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