Defective CYP2U1 does not omega-hydroxylate ARA

Stable Identifier
Reaction [transition]
Homo sapiens
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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). CYP2U1 mutations that cause SPG56 are D316V, E380G, C262R, R488W and L21Wfs*19 (Tesson et al. 2012).
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
Catalyst Activity

monooxygenase activity of CYP2U1 mutants [endoplasmic reticulum membrane]

Normal reaction
Functional status

Loss of function of CYP2U1 mutants [endoplasmic reticulum membrane]

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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