Defective CYP2U1 causes SPG56

Stable Identifier
Homo sapiens
Defective CYP2U1 causes Spastic paraplegia 56, autosomal recessive (SPG56)
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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 (Tesson et al. 2012, Fink 2013).

Literature References
PubMed ID Title Journal Year
23176821 Alteration of fatty-acid-metabolizing enzymes affects mitochondrial form and function in hereditary spastic paraplegia

Tesson, C, Yamashita, A, Gaussen, M, Nawara, M, Elmalik, SA, Zaki, MS, Al Abdulkareem, I, Al Drees, A, Durr, A, Benomar, A, Darios, F, Mochel, F, Al Balwi, M, Lechner, D, Lacombe, D, Schols, L, Yahyaoui, M, Goizet, C, Depienne, C, Esteves, T, Oteyza, AC, Gonzalez, M, Salih, MA, Lamari, F, Monin, ML, Obre, E, Durand, CM, Gyapay, G, Gleeson, JG, Kabiraj, MM, Bouslam, N, Schule, R, Bouhouche, A, Brice, A, Zuchner, S, El-Hachimi, KH, Santorelli, FM, Seidahmed, MZ, Rossignol, R, Lavie, J, Stevanin, G, Mignot, C

Am. J. Hum. Genet. 2012
23897027 Hereditary spastic paraplegia: clinico-pathologic features and emerging molecular mechanisms

Fink, JK

Acta Neuropathol. 2013
Name Identifier Synonyms
hereditary spastic paraplegia DOID:2476 Hereditary spastic paraplegia, Hereditary spastic paraplegia, Hereditary spastic paraplegia (disorder), Hereditary spastic paraplegia, familial spastic paraplegia, HSMN V
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