CYP4V2 omega-hydroxylates DHA to HDoHE

Stable Identifier
R-HSA-6786239
Type
Reaction [transition]
Species
Homo sapiens
Compartment
Locations in the PathwayBrowser
General
SVG |   | PPTX  | SBGN
Click the image above or here to open this reaction in the Pathway Browser
The layout of this reaction may differ from that in the pathway view due to the constraints in pathway layout

The main physiological function of normal retinal photoreceptor epithelial (RPE) cells is to import polyunsaturated fatty acids (PUFAs) from the bloodstream and to recycle them to maintain lipid homeostasis in photoreceptors. CYP4 enzymes are microsomal fatty acid omega-hydroxylases that function to degrade cellular lipids. CYP4V2 is present in epithelial cells of the retina and cornea, localised to the endoplasmic reticulum membrane and can hydroxylate PUFAs to their respective omega-hydroxylated products. Docosahexaenoic acid (DHA), which is found at high concentrations in the eye, is a C22 PUFA which is hydroxylated to omega-hydroxy-DHA (Nakano et al. 2009, 2012). Defects in CYP4V2 can cause Bietti crystalline corneoretinal dystrophy (BCD; MIM:210370), an ocular disease characterised by retinal degeneration and marginal corneal dystrophy resulting in progressive night blindness and constriction of the visual field. A typical feature is multiple glistening intraretinal crystals scattered over the fundus (Li et al. 2004, Nakano et al. 2012).

Literature References
PubMed ID Title Journal Year
22772592 CYP4V2 in Bietti's crystalline dystrophy: ocular localization, metabolism of ω-3-polyunsaturated fatty acids, and functional deficit of the p.H331P variant

Nakano, M, Kelly, EJ, Wiek, C, Hanenberg, H, Rettie, AE

Mol. Pharmacol. 2012
19661213 Expression and characterization of CYP4V2 as a fatty acid omega-hydroxylase

Nakano, M, Kelly, EJ, Rettie, AE

Drug Metab. Dispos. 2009
15042513 Bietti crystalline corneoretinal dystrophy is caused by mutations in the novel gene CYP4V2

Li, A, Jiao, X, Munier, FL, Schorderet, DF, Yao, W, Iwata, F, Hayakawa, M, Kanai, A, Shy Chen, M, Alan Lewis, R, Heckenlively, J, Weleber, RG, Traboulsi, EI, Zhang, Q, Xiao, X, Kaiser-Kupfer, M, Sergeev, YV, Hejtmancik, JF

Am J Hum Genet 2004
Participants
Participant Of
Catalyst Activity
Catalyst Activity
Title
monooxygenase activity of CYP4V2 [endoplasmic reticulum membrane]
Physical Entity
Activity
Orthologous Events
Authored
Reviewed
Created
Cite Us!