| CYP7B1 — Cytochrome P450 Family 7 Subfamily B Member 1 | |
|---|---|
| Symbol | CYP7B1 |
| Full Name | Cytochrome P450 7B1 (Oxysterol 7-alpha-hydroxylase) |
| Chromosome | 8q12.3 |
| NCBI Gene | 9420 |
| Ensembl | ENSG00000172817 |
| OMIM | 603711 |
| UniProt | O76074 |
| Protein | [CYP7B1 Protein](/proteins/cyp7b1-protein) |
| Diseases | [Hereditary Spastic Paraplegia](/diseases/hereditary-spastic-paraplegia) (SPG5), [Liver Disease](/diseases/liver-disease) |
| Expression | Liver, Brain, Kidney, Testis, Spinal cord |
Cyp7B1 Gene Hereditary Spastic Paraplegia 5 is an important component in the neurobiology of neurodegenerative diseases. This page provides detailed information about its structure, function, and role in disease processes.
CYP7B1 (Cytochrome P450 Family 7 Subfamily B Member 1) encodes the enzyme oxysterol 7-alpha-hydroxylase, a crucial enzyme in cholesterol metabolism and bile acid synthesis [1]. Located on chromosome 8q12.3, mutations in CYP7B1 cause autosomal recessive hereditary spastic paraplegia type 5 (SPG5) and a form of congenital bile acid deficiency [2][3].
The enzyme catalyzes multiple hydroxylation reactions essential for cholesterol homeostasis:
CYP7B1 catalyzes the following reactions:
CYP7B1 mutations cause autosomal recessive hereditary spastic paraplegia type 5 (SPG5) [2][3]:
Inheritance: Autosomal recessive
Onset: Usually childhood or adolescence
Clinical Features:
Pathology: Degeneration of corticospinal tract fibers
Brain Imaging: May show white matter abnormalities
CYP7B1 mutations can cause:
The mechanism of neurodegeneration in SPG5 involves:
| Approach | Mechanism | Status | Reference |
|---|---|---|---|
| Cholesterol-lowering agents | Reduce oxysterol burden | Symptomatic | [4] |
| Gene Therapy | Restore CYP7B1 expression | Preclinical | - |
| Bile Acid Supplementation | Bypass metabolic block | Research | - |
The study of Cyp7B1 Gene Hereditary Spastic Paraplegia 5 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.