fatty acid desaturase 2 (delta(6) fatty acid desaturase, delta(6) desaturase, D6D, FADS2)
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Function
- component of a lipid metabolic pathway that catalyzes biosynthesis of highly unsaturated fatty acids from precursor essential polyunsaturated fatty acids (PUFA) linoleic acid (18:2n-6) & alpha-linolenic acid (18:3n-3)
- catalyzes the first & rate limiting step in this pathway. desaturation of linoleic acid (18:2n-6) & alpha-linolenic acid (18:3n-3) into gamma-linoleic acid (18:3n-6) & stearidonic acid (18:4n-3) respectively & other desaturation steps
- catalizes as well the introduction of a cis double bond in palmitate to produce the mono-unsaturated fatty acid sapienate, the most abundant fatty acid in sebum
- highly unsaturated fatty acid biosynthesis
Structure
- histidine box domains may contain the active site &/or be involved in metal ion binding
- belongs to the fatty acid desaturase family
- contains 1 cytochrome b5 heme-binding domain
Compartment
endoplasmic reticulum membrane
Alternative splicing
named isoforms=3
Expression
- expressed in a wide array of tissues
- expressed in liver > brain, lung, heart, & retina
- repressed by dietary highly unsaturated fatty acids
Pathology
- defects in FADS2 are the cause of fatty acid delta-6-desaturase deficiency
- lower level is found in breast tumor when compared with normal tissues; lowest levels were found in patients with poor prognostic index