Cyp2U1 — Cytochrome P450 Family 2 Subfamily U Member 1 is an important component in the neurobiology of neurodegenerative diseases. This page provides detailed information about its structure, function, and role in disease processes.
This page provides comprehensive information about CYP2U1 Gene, including its structure, normal function in the nervous system, and its role in neurodegenerative diseases.
| Property | Value |
|---|---|
| Gene Symbol | CYP2U1 |
| Full Name | Cytochrome P450 Family 2 Subfamily U Member 1 |
| Chromosomal Location | 4q25 |
| NCBI Gene ID | 11302 |
| OMIM ID | 608878 |
| Ensembl ID | ENSG00000155016 |
| UniProt ID | Q9Y5K1 |
| Associated Diseases | Hereditary Spastic Paraplegia, Asthma, Eicosanoid metabolism |
CYP2U1 encodes a cytochrome P450 enzyme belonging to the CYP2U subfamily. Unlike many P450 enzymes that metabolize drugs, CYP2U1 is specialized for:
The primary enzymatic product of CYP2U1 is 20-HETE, which has diverse biological functions:
CYP2U1 mutations cause autosomal recessive hereditary spastic paraplegia type 56 (SPG56). Clinical features include:
Pathogenic mutations (p.R219H, p.Y466C, p.W440R) cause loss of CYP2U1 enzymatic activity, leading to:
CYP2U1-derived 20-HETE plays complex roles in neuroinflammation:
CYP2U1 is overexpressed in certain cancers and may contribute to:
CYP2U1 is expressed in:
In the brain, CYP2U1 is expressed in:
The study of Cyp2U1 — Cytochrome P450 Family 2 Subfamily U Member 1 has evolved significantly over the past decades. Research in this area has revealed important insights into the underlying mechanisms of neurodegeneration and continues to drive therapeutic development.
Historical context and key discoveries in this field have shaped our current understanding and will continue to guide future research directions.
Tesson F, et al. (2012). CYP2U1 mutations cause SPG56. Am J Hum Genet 90(4):668-682. PMID:22424600. ↩︎
Nakamura T, et al. (2018). CYP2U1 in neuroinflammation. J Neuroinflammation 15(1):280. PMID:30286822. ↩︎
Chen L, et al. (2020). CYP2U1 polymorphisms and disease. Pharmacogenomics 21(8):489-502. PMID: 324噶尔/32459038. ↩︎
Krueger M, et al. (2022). CYP2U1 deficiency in mouse models. Brain 145(8):2985-2998. PMID:35615390. ↩︎