CYP27A1
Chr 2ARcytochrome P450 family 27 subfamily A member 1
The encoded cytochrome P450 enzyme catalyzes the hydroxylation of cholesterol and its derivatives to convert excess cholesterol to bile acids, serving as the major pathway for cholesterol elimination from the body. Mutations cause cerebrotendinous xanthomatosis, an autosomal recessive lipid storage disease characterized by abnormal cholesterol and cholestanol accumulation in tissues including the brain. The pathogenic mechanism involves gain-of-function effects that disrupt normal cholesterol homeostasis.
Definitive — sufficient evidence for diagnostic panels
Some data sources returned errors (1)
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Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Tolerant to missense variation
Predictions shown for reference only — model trained on dominant genes, not applicable to AR conditions.
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
CYP27A1 · 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
ScreenPlus: A Comprehensive, Flexible, Multi-disorder Newborn Screening Program
ENROLLING BY INVITATIONA Study of Genetic Influence on LDL Hyper-responsiveness in Patients Following a Ketogenic Diet
RECRUITINGExercise to Fight Obesity
RECRUITINGExternal Resources
Links to major genomics databases and tools