CYP7B1 encodes cytochrome P450 family 7 subfamily B member 1 (506 aa). A cytochrome P450 monooxygenase involved in the metabolism of endogenous oxysterols and steroid hormones, including neurosteroids. Highest expression in Cells Cultured fibroblasts (12.4 TPM) and Cells EBV-transformed lymphocytes (9.7 TPM).

Hereditary spastic paraplegia 5A is associated with mutations in the CYP7B1 gene on chromosome 8.

The CYP7B1 protein participates in Cytochrome P450 (CYP7B1 based) pathway.

CYP7B1 is classified as a druggable target (Cytochrome P450, Druggable Genome, and Enzyme categories) with score 7.0.

Genetic testing for CYP7B1 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for hereditary spastic paraplegia 5A has been reported in the published literature.

Phenotype severity distribution: 3 always present features, 3 very common features, 4 common features.

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

No clinical trials have been registered for hereditary spastic paraplegia 5A.

107 publications have been identified in PubMed for hereditary spastic paraplegia 5A. Research spans Basic Science / Preclinical (28%), Case Report / Case Series (22%), and Review / Meta-Analysis (20%).

Recent Publications

• Ziegler M (2026). [PMID: 42154535](https://pubmed.ncbi.nlm.nih.gov/42154535/). *JCI Insight*. [Gene Therapy / Novel Therapeutics]

• Esener Z (2026). [PMID: 41808431](https://pubmed.ncbi.nlm.nih.gov/41808431/). *Int J Dev Neurosci*. [Review / Meta-Analysis]

• Gillesse EH (2026). [PMID: 41656397](https://pubmed.ncbi.nlm.nih.gov/41656397/). *Neurogenetics*. [Case Report / Case Series]

• Santangelo S (2026). [PMID: 41836058](https://pubmed.ncbi.nlm.nih.gov/41836058/). *Frontiers in genetics*. [Gene Therapy / Novel Therapeutics]

• Dulski J (2026). [PMID: 40873038](https://pubmed.ncbi.nlm.nih.gov/40873038/). *HGG advances*. [Basic Science / Preclinical]

• Lin PY (2026). [PMID: 40518753](https://pubmed.ncbi.nlm.nih.gov/40518753/). *Acta Neurol Taiwan*. [Epidemiology / Natural History]

• Satolli S (2026). [PMID: 41493653](https://pubmed.ncbi.nlm.nih.gov/41493653/). *Neurol Sci*. [Review / Meta-Analysis]

• Akarsu Ş (2026). [PMID: 41797006](https://pubmed.ncbi.nlm.nih.gov/41797006/). *J Neurochem*. [Basic Science / Preclinical]

• Israr S (2026). [PMID: 40856587](https://pubmed.ncbi.nlm.nih.gov/40856587/). *J Child Neurol*. [Review / Meta-Analysis]

• Esmaeil Lashgarian H (2026). [PMID: 41625348](https://pubmed.ncbi.nlm.nih.gov/41625348/). *Iran J Med Sci*. [Case Report / Case Series]