CYP2U1
Cytochrome P450 Family 2 Subfamily U Member 1
Gene Information Card
| Symbol | CYP2U1 |
|---|---|
| Full Name | Cytochrome P450 Family 2 Subfamily U Member 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 4q25 |
| NCBI Gene ID | 113612 ncbi.nlm.nih.gov/gene/113612 |
| Ensembl ID | ENSG00000101679 |
| UniProt ID | Q7Z449 |
| OMIM ID | 610670 |
| HGNC ID | 20582 |
| Aliases | P450TEC, CYP2U, FLJ12598 |
Description
CYP2U1 encodes a member of the cytochrome P450 superfamily of enzymes, which are heme-thiolate monooxygenases involved in the metabolism of various endogenous and exogenous compounds. CYP2U1 specifically hydroxylates long-chain fatty acids, including arachidonic acid and docosahexaenoic acid, and is highly expressed in the brain and thymus. Mutations in CYP2U1 are associated with hereditary spastic paraplegia type 56 (SPG56), a neurodegenerative disorder characterized by progressive spasticity and weakness of the lower limbs.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Hereditary Spastic Paraplegia 56 (SPG56) | Loss-of-function mutations impair fatty acid hydroxylation, leading to axonal degeneration | ClinVar, OMIM |
| Complex Hereditary Spastic Paraplegia | Mutations in CYP2U1 can cause additional neurological features such as cognitive impairment and white matter abnormalities | OMIM, PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Thymus | 10.2 | Medium |
| Testis | 6.8 | Low |
| Kidney | 5.1 | Low |
| Liver | 3.4 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 15.3 | High expression |
| HEK293 (embryonic kidney) | 8.7 | Moderate expression |
| HepG2 (hepatocellular carcinoma) | 4.2 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.947G>A (p.Arg316His) | Missense | Rare | Loss of enzyme activity |
| c.1A>G (p.Met1Val) | Start loss | Rare | Complete loss of protein |
| c.1433C>T (p.Pro478Leu) | Missense | Rare | Reduced catalytic activity |
Mutation functional classification
Loss of Function (LOF)
Most CYP2U1 mutations result in loss of hydroxylase activity, leading to accumulation of unmodified fatty acids and axonal damage.
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)
| • arachidonic acid monooxygenase activity | • heme binding |
| • iron ion binding | • oxidoreductase activity |
| • acting on paired donors | • with incorporation or reduction of molecular oxygen |
| • omega-hydroxylase activity |
Pathways
• Arachidonic acid metabolism
• Fatty acid omega-hydroxylation
Protein Summary
CYP2U1 is a 544-amino acid microsomal cytochrome P450 enzyme that catalyzes the omega-hydroxylation of long-chain fatty acids, particularly arachidonic acid (20:4) and docosahexaenoic acid (22:6). It is predominantly expressed in the brain and thymus. The enzyme plays a critical role in lipid signaling and membrane homeostasis. Loss-of-function mutations cause hereditary spastic paraplegia type 56 (SPG56), a neurodegenerative disorder.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CYP2U1 Knockout HEK293 Cell Line | EDJ-KQ6785 | Human | 113612 | Details Get a Quote |
| CYP2U1 Knockout A-549 Cell Line | EDJ-KQ32622 | Human | 113612 | Details Get a Quote |
| CYP2U1 Knockout HCT 116 Cell Line | EDJ-KQ32623 | Human | 113612 | Details Get a Quote |
| CYP2U1 Knockout HeLa Cell Line | EDJ-KQ32624 | Human | 113612 | Details Get a Quote |
