Defective CYP2U1 causes SPG56

Cytochrome P450 2U1 (CYP2U1) catalyses the hydroxylation of arachidonic acid, docosahexaenoic acid and other long chain fatty acids, generating bioactive eicosanoid derivatives which may play an important physiological role in fatty acid signaling processes. Defects in CYP2U1 can cause Spastic paraplegia 56, autosomal recessive (SPG56; MIM:615030), a neurodegenerative disorder characterised by a slow, gradual, progressive weakness and spasticity of the lower limbs.

Summary from Reactome (R-HSA-5579011), read 2026-09-23.