CYP39A1
Cytochrome P450 Family 39 Subfamily A Member 1
Gene Information Card
| Symbol | CYP39A1 |
|---|---|
| Full Name | Cytochrome P450 Family 39 Subfamily A Member 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 6p12.1 |
| NCBI Gene ID | 51302 ncbi.nlm.nih.gov/gene/51302 |
| Ensembl ID | ENSG00000187134 |
| UniProt ID | Q9NYL5 |
| OMIM ID | 611998 |
| HGNC ID | 26447 |
| Aliases | MGC138234, MGC138236 |
Description
CYP39A1 encodes a member of the cytochrome P450 superfamily of enzymes, specifically oxysterol 7α-hydroxylase. This enzyme catalyzes the 7α-hydroxylation of 24-hydroxycholesterol and 27-hydroxycholesterol, key steps in the alternative (acidic) pathway of bile acid synthesis. CYP39A1 is predominantly expressed in the liver and contributes to cholesterol homeostasis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cerebrotendinous xanthomatosis (CTX) | Deficiency in CYP39A1 may impair oxysterol metabolism, leading to accumulation of cholestanol and bile acid precursors; however, CTX is primarily associated with CYP27A1 mutations. | ClinVar, OMIM |
| Hypercholesterolemia | Altered CYP39A1 activity may affect cholesterol catabolism and bile acid production, potentially influencing serum cholesterol levels. | NCBI Gene, ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 10.2 | High |
| Kidney | 1.5 | Low |
| Small intestine | 0.8 | Low |
| Brain | 0.3 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 5.6 | Hepatocellular carcinoma cell line |
| HEK293 | 0.2 | Embryonic kidney cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | <0.01% | Likely loss of start codon; predicted to abolish protein expression |
| c.100C>T (p.Arg34Trp) | Missense | <0.01% | Unknown significance; rare variant |
Mutation functional classification
Loss of Function (LOF)
Loss-of-function variants in CYP39A1 are rare and may impair oxysterol 7α-hydroxylase activity, potentially disrupting bile acid synthesis.
Gain of Function (GOF)
No gain-of-function mutations have been reported.
Dominant Negative (DN)
No dominant-negative effects have been described.
View complete mutation data：
Gene Ontology (GO)
| • oxysterol 7-alpha-hydroxylase activity | • heme binding |
| • iron ion binding | • oxidoreductase activity |
| • acting on paired donors | • with incorporation or reduction of molecular oxygen |
| • cholesterol metabolic process | • bile acid biosynthetic process |
Pathways
• Alternative pathway of bile acid synthesis
• Metabolism of lipids and lipoproteins
Protein Summary
CYP39A1 is a 469-amino-acid microsomal cytochrome P450 enzyme localized to the endoplasmic reticulum. It contains a conserved heme-binding domain and catalyzes the 7α-hydroxylation of oxysterols, particularly 24-hydroxycholesterol and 27-hydroxycholesterol, initiating their conversion to bile acids. The protein is expressed primarily in the liver and plays a role in cholesterol elimination.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CYP39A1 Knockout HEK293 Cell Line | EDJ-KQ11027 | Human | 51302 | Details Get a Quote |
| CYP39A1 Knockout HeLa Cell Line | EDJ-KQ38919 | Human | 51302 | Details Get a Quote |
| CYP39A1 Knockout A-549 Cell Line | EDJ-KQ64767 | Human | 51302 | Details Get a Quote |
| CYP39A1 Knockout HCT 116 Cell Line | EDJ-KQ73215 | Human | 51302 | Details Get a Quote |
