CYP51A1: Lanosterol 14-alpha Demethylase
Key enzyme in cholesterol biosynthesis and antifungal drug target
Gene Information Card
| Symbol | CYP51A1 |
|---|---|
| Full Name | Cytochrome P450 Family 51 Subfamily A Member 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 7q21.2 |
| NCBI Gene ID | 1595 ncbi.nlm.nih.gov/gene/1595 |
| Ensembl ID | ENSG00000001630 |
| UniProt ID | Q16850 |
| OMIM ID | 601637 |
| HGNC ID | 2649 |
| Aliases | CYP51, P450-14DM, LDM, CP51A1 |
Description
CYP51A1 encodes lanosterol 14-alpha demethylase, a cytochrome P450 enzyme that catalyzes the demethylation of lanosterol to 4,4-dimethylcholesta-8,14,24-trienol, a critical step in cholesterol biosynthesis. This enzyme is also the target of azole antifungal drugs. Mutations in CYP51A1 are associated with congenital disorders of glycosylation and sterol metabolism defects.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Congenital disorder of glycosylation type IInn | Loss-of-function mutations impair cholesterol synthesis, leading to multisystem glycosylation defects | OMIM #618958 |
| Antifungal drug resistance (fungal) | Overexpression or mutations in fungal CYP51 homologs reduce azole binding | PubMed studies |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.3 | High |
| Adrenal gland | 8.7 | Medium |
| Testis | 6.5 | Medium |
| Small intestine | 5.9 | Medium |
| Kidney | 4.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 15.1 | Hepatocyte line |
| A549 | 7.8 | Lung carcinoma |
| MCF7 | 6.3 | Breast cancer |
| HEK293 | 5.0 | Embryonic kidney |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1154C>T (p.Pro385Leu) | Missense | Rare | Loss of enzymatic activity; associated with CDG type IInn |
| c.1A>G (p.Met1Val) | Start loss | Rare | Complete loss of protein expression |
Mutation functional classification
Loss of Function (LOF)
Missense and start-loss mutations reduce or abolish lanosterol demethylase activity, leading to cholesterol deficiency and glycosylation defects.
Gain of Function (GOF)
Not reported in human CYP51A1.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • C-14 sterol demethylase activity (GO:0000249) | • monooxygenase activity (GO:0004497) |
| • iron ion binding (GO:0005506) | • cholesterol biosynthetic process (GO:0006695) |
| • integral component of membrane (GO:0016021) | • heme binding (GO:0020037) |
Pathways
• Cholesterol biosynthesis (Reactome: R-HSA-191273)
• Metabolism of steroids (Reactome: R-HSA-8957322)
• Cytochrome P450 - arranged by substrate type (KEGG: hsa00982)
Protein Summary
CYP51A1 is a 503-amino acid microsomal cytochrome P450 enzyme localized to the endoplasmic reticulum. It contains a heme-binding domain and a conserved cysteine ligand. The protein catalyzes the oxidative removal of the 14α-methyl group from lanosterol, a rate-limiting step in cholesterol synthesis. It is widely expressed in steroidogenic and non-steroidogenic tissues.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CYP51A1 Knockout HEK293 Cell Line | EDJ-KQ13085 | Human | 1595 | Details Get a Quote |
| CYP51A1 Knockout A-549 Cell Line | EDJ-KQ41138 | Human | 1595 | Details Get a Quote |
| CYP51A1 Knockout HCT 116 Cell Line | EDJ-KQ26294 | Human | 1595 | Details Get a Quote |
| CYP51A1 Knockout HeLa Cell Line | EDJ-KQ42367 | Human | 1595 | Details Get a Quote |
| CYP51A1 Knockout Hep-G2 Cell Line | EDJ-KZ176 | Human | 1595 | Details Get a Quote |
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