CYP27A1

Chr 2q35

cytochrome P450 family 27 subfamily A member 1

Aliases:: CTX, CP27
MANE:: ENST00000258415.9

OMIM: 606530 ↗NCBI: 1593 ↗Ensembl ↗

Annotations refreshed 1 month ago.

Predicted protein structure

AlphaFold predicted structure

CYP27A1 · Q02318

v62025-08-01

Predicted Aligned Error matrix for CYP27A1 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

88.0/ 100

Confident

531 residues

Confidence breakdown

Very high(≥ 90)81%
Confident(70–90)8%
Low(50–70)1%
Very low(< 50)10%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Adult onset dystonia, chorea or related movement disorder
BIALLELIC, autosomal or pseudoautosomal
Adult onset hereditary spastic paraplegia
BIALLELIC, autosomal or pseudoautosomal
Adult onset leukodystrophy
BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder
BIALLELIC, autosomal or pseudoautosomal
Ataxia and cerebellar anomalies - narrow panel
BIALLELIC, autosomal or pseudoautosomal
Bilateral congenital or childhood onset cataracts
BIALLELIC, autosomal or pseudoautosomal
Childhood onset hereditary spastic paraplegia
BIALLELIC, autosomal or pseudoautosomal
Cholestasis
BIALLELIC, autosomal or pseudoautosomal

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Disease associations (Open Targets)

cerebrotendinous xanthomatosis
0.87
Abnormality of the cardiovascular system
0.54
Senior-Loken syndrome 1
0.34
photosensitive epilepsy
0.18
Seizure
0.18
placental retention
0.18
Intellectual disability
0.15
Abnormality of the skeletal system
0.12
Premature coronary artery atherosclerosis
0.12
breast cancer
0.10

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Sterol 26-hydroxylase, mitochondrial

Cytochrome P450 monooxygenase that catalyzes regio- and stereospecific hydroxylation of cholesterol and its derivatives. Hydroxylates (with R stereochemistry) the terminal methyl group of cholesterol side-chain in a three step reaction to yield at first a C26 alcohol, then a C26 aldehyde and finally a C26 acid (PubMed:12077124, PubMed:21411718, PubMed:28190002, PubMed:9660774). Regulates cholesterol homeostasis by catalyzing the conversion of excess cholesterol to bile acids via both the 'neutral' (classic) and the 'acid' (alternative) pathways (PubMed:11412116, PubMed:1708392, PubMed:2019602, PubMed:7915755, PubMed:9186905, PubMed:9660774, PubMed:9790667). May also regulate cholesterol homeostasis via generation of active oxysterols, which act as ligands for NR1H2 and NR1H3 nuclear receptors, modulating the transcription of genes involved in lipid metabolism (PubMed:12077124, PubMed:9660774). Catalyzes the conversion of 7-ketocholesterol (7-oxocholesterol) into 7-keto,27-hydroxycholesterol, a precursor of 7-keto,27-hydroxycholesterol, an active oxysterol that activates smoothened (SMO) and the smoothened signaling pathway (By similarity). Plays a role in cholestanol metabolism in the cerebellum. Similarly to cholesterol, hydroxylates cholestanol and may facilitate sterol diffusion through the blood-brain barrier to the systemic circulation for further degradation (PubMed:28190002). Also hydroxylates retinal 7-ketocholesterol, a noxious oxysterol with pro-inflammatory and pro-apoptotic effects, and may play a role in its elimination from the retinal pigment epithelium (PubMed:21411718). May play a redundant role in vitamin D biosynthesis. Catalyzes 25-hydroxylation of vitamin D3 that is required for its conversion to a functionally active form (PubMed:15465040)