CYP27A1
Cytochrome P450 Family 27 Subfamily A Member 1
Gene Information Card
| Symbol | CYP27A1 |
|---|---|
| Full Name | Cytochrome P450 Family 27 Subfamily A Member 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 2q35 |
| NCBI Gene ID | 1593 ncbi.nlm.nih.gov/gene/1593 |
| Ensembl ID | ENSG00000135914 |
| UniProt ID | Q02318 |
| OMIM ID | 606530 |
| HGNC ID | 2605 |
| Aliases | CTX, CYP27, CP27, P450C27 |
Description
CYP27A1 encodes the mitochondrial enzyme sterol 27-hydroxylase, a member of the cytochrome P450 superfamily. This enzyme catalyzes the 27-hydroxylation of cholesterol intermediates during bile acid biosynthesis and also participates in vitamin D3 activation. Mutations in CYP27A1 cause cerebrotendinous xanthomatosis (CTX), a rare autosomal recessive disorder characterized by lipid storage, neurological dysfunction, and tendon xanthomas.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cerebrotendinous Xanthomatosis (CTX) | Loss-of-function mutations impair bile acid synthesis, leading to accumulation of cholestanol and cholesterol in tissues. | ClinVar, OMIM |
| Spastic Paraplegia Type 5 (SPG5) | Biallelic CYP27A1 mutations cause a pure form of hereditary spastic paraplegia due to defective sterol metabolism. | OMIM, PubMed |
| Cholestasis (rare) | Reduced CYP27A1 activity disrupts bile acid production, contributing to intrahepatic cholestasis. | NCBI Gene, ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.3 | High |
| Adrenal Gland | 8.7 | Medium |
| Kidney | 5.1 | Medium |
| Brain | 2.4 | Low |
| Lung | 1.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 10.5 | Hepatocyte line, high expression |
| HEK293 | 3.2 | Embryonic kidney, moderate |
| SH-SY5Y | 1.1 | Neuroblastoma, low |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1183C>T (p.Arg395Cys) | Missense | Common in CTX | Reduces enzyme activity <10% |
| c.1263+1G>A | Splice donor | Rare | Complete loss of function |
| c.1016C>T (p.Thr339Met) | Missense | Found in SPG5 | Partial activity loss |
Mutation functional classification
Loss of Function (LOF)
Most CTX-associated mutations are loss-of-function, reducing or abolishing sterol 27-hydroxylase activity.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
Not described for CYP27A1; disease is recessive.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Bile acid biosynthesis (KEGG: hsa00120)
• Vitamin D metabolism (Reactome: R-HSA-196791)
• Cholesterol metabolism (Reactome: R-HSA-8957322)
Protein Summary
Sterol 27-hydroxylase is a 531-amino acid mitochondrial cytochrome P450 enzyme that hydroxylates cholesterol side chains. It is essential for the classic pathway of bile acid synthesis, converting cholesterol to 27-hydroxycholesterol. The protein contains a heme-binding domain and an adrenodoxin-binding site. Defects lead to accumulation of cholestanol and bile alcohol glucuronides, characteristic of CTX.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CYP27A1 Knockout HEK293 Cell Line | EDJ-KQ3373 | Human | 1593 | Details Get a Quote |
| CYP27A1 Knockout HeLa Cell Line | EDJ-KQ53064 | Human | 1593 | Details Get a Quote |
| CYP27A1 Knockout A-549 Cell Line | EDJ-KQ61529 | Human | 1593 | Details Get a Quote |
| CYP27A1 Knockout HCT 116 Cell Line | EDJ-KQ70022 | Human | 1593 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
