Features include always present findings: Babinski sign and Lower limb hyperreflexia; and common findings: Basal ganglia calcification, Peripheral axonal neuropathy, Delayed ability to walk, and Hypoplasia of the corpus callosum and others. 15 total HPO annotations.

CYP2U1 encodes cytochrome P450 family 2 subfamily U member 1 (544 aa). A cytochrome P450 monooxygenase involved in the metabolism of arachidonic acid and its conjugates. Highest expression in Nerve Tibial (26.8 TPM) and Artery Aorta (16.1 TPM).

Hereditary spastic paraplegia 56 is associated with mutations in the CYP2U1 gene on chromosome 4.

The CYP2U1 protein participates in CYP2U1 L21Wfs*19, CYP2U1 19-hydroxylates ARA, and Defective CYP2U1 does not omega-hydroxylate ARA pathways.

CYP2U1 is classified as a druggable target (Cytochrome P450, Druggable Genome, and Enzyme categories) with score 0.0.

Genetic testing for CYP2U1 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for hereditary spastic paraplegia 56 has been reported in the published literature.

Phenotype severity distribution: 2 always present features, 6 common features.

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

No clinical trials have been registered for hereditary spastic paraplegia 56.

23 publications have been identified in PubMed for hereditary spastic paraplegia 56. Research spans Epidemiology / Natural History (26%), Diagnostic / Biomarker (22%), and Case Report / Case Series (22%).