CYP27A1 (Q02318) variants and mutations

CYP27A1 (also known as Q02318) is a human protein-coding gene encoding a sterol 26-hydroxylase, mitochondrial protein. It hydroxylates sterol intermediates in bile-acid synthesis and contributes to cholesterol elimination and oxysterol production. Biallelic loss-of-function variants cause cerebrotendinous xanthomatosis, a treatable disorder with cholestanol accumulation, cataracts, tendon xanthomas, and progressive neurologic disease. This analysis covers 1,107 CYP27A1 variants and mutations. Of these, 83% have computational variant effect predictions. Disease context includes cerebrotendinous xanthomatosis, Abnormality of the cardiovascular system, and Senior-Loken syndrome 1. Example CYP27A1 variants include M1T, M1V, and A2T.

Variant analysis overview

Variant and mutation evidence

Clinical, disease, and population context

Protein structure and variant hotspots

Data sources

Evidence in this analysis draws on EBI Proteins Variation, UniProt, gnomAD v4, EuropePMC, 3D Hotspot Analysis, Interaction Network Analysis, AlphaFold DB, gnomAD constraint, Open Targets, ClinGen, MaveDB, LitVar.

Notable CYP27A1 variants

Examples include M1T, M1V, A2T, A2V, A2S, A2D, A2A, A3C. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.