| 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 |
| Diseases | Hereditary Spastic Paraplegia (SPG5), Liver Disease |
| Expression | Liver, Brain, Kidney, Testis, Spinal cord |
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 | - |
CYP7B1 in cholesterol and bile acid metabolism. Journal of Lipid Research, 2013.
CYP7B1 mutations cause hereditary spastic paraplegia. Brain, 2009.
SPG5: CYP7B1-related hereditary spastic paraplegia. Movement Disorders, 2012.
Oxysterols in neurodegenerative diseases. Neurobiology of Aging, 2020.