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Gene Review

FADS2  -  fatty acid desaturase 2

Homo sapiens

Synonyms: D6D, DES6, Delta(6) desaturase, Delta(6) fatty acid desaturase, Delta-6 desaturase, ...
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Disease relevance of FADS2

  • The human isoform 2 of FADS (hFADS2), which is the product of FLAD1 gene, was over-expressed in Escherichia coli as a T7-tagged protein and identified by MALDI-TOF MS analysis [1].
  • The predictive value of D5D activity was independent of lifestyle factors (smoking, BMI and physical activity), whereas the risk associated with higher SCD-1 and D6D activities was mainly explained by obesity [2].
  • We observed a significant decrease in D6D activity, evaluated by a radiochemical technique using 1-[14C]-linoleic acid as substrate, in cirrhotic patients with no correlation with the etiology of the cirrhosis [3].

High impact information on FADS2

  • A nucleotide insertion in the transcriptional regulatory region of FADS2 gives rise to human fatty acid delta-6-desaturase deficiency [4].
  • Within human skin, Delta-6 desaturase/FADS2 mRNA and protein expression is restricted to differentiating sebocytes located in the suprabasal layers of the sebaceous gland [5].
  • We investigated the molecular mechanism of FADS2 deficiency in skin fibroblasts from a patient deficient in this enzyme [4].
  • Delta-6 desaturase, also known as fatty acid desaturase-2 (FADS2), is a component of a lipid metabolic pathway that converts the essential fatty acids linoleate and alpha-linolenate into long-chain polyunsaturated fatty acids [5].
  • The hepatic expression of D5D as well as Delta(6)-desaturase (D6D) was highly activated in transgenic mice overexpressing nuclear SREBP-1a, -1c, and -2 [6].

Biological context of FADS2

  • A key regulator of desaturase gene expression is sterol-regulatory element binding protein-1c (SREBP-1c), which mediates transcriptional activation of the SCD and D6D genes by insulin and inhibition by HUFAs [7].
  • Two different fad2 cDNAs from an embryo cDNA library map to separate chromosomal positions, providing evidence consistent with two different isoforms of fad2 expressed in the embryo [8].
  • The fad2 cDNAs from multiple tissue sources clustered into three groups on a phenogram, and map to different positions on chromosomes 4, 5 and 10, which suggests at least three different isoforms of fad2 may be expressed in the maize plant [8].
  • Genospecies 14 (Bouvet) yielded a very weak cross-reaction with genospecies 3 serovar 20, and genospecies TU 13 reacted weakly with anti-genospecies 3 serovar 15 serum [9].

Anatomical context of FADS2

  • Despite these different physiological roles of SCD and D6D/D5D, these desaturases share common regulatory features, including dependence of expression on insulin, suppression by HUFAs, and induction by peroxisome proliferators (PPs) [7].
  • Following the cloning of mammalian Delta6-desaturase (D6D), the D6D mRNA was found in many tissues, including adult brain, maternal organs, and fetal tissue, suggesting an active synthesis of HUFA in these tissues [10].
  • The delta-6-desaturase (D6D) activity was evaluated in microsomes from liver fragments of cholecystectomized subjects without any liver pathology and from explanted liver of patients affected by cirrhosis of different etiologies [3].
  • CONCLUSION: We found a decreased level of arachidonic acid in breast milk in atopic compared to non-atopic mothers, but no indication that the rate-limiting enzymatic step (D6D) is involved [11].
  • Delta-6-desaturase (D6D) levels have been found to fall rapidly in the testes and more slowly in the liver in aging rats [12].

Associations of FADS2 with chemical compounds

  • The expressed protein accounted for more than 40% of the total protein extracted from the cell culture; 10% of it was recovered in a soluble and nearly pure form by Triton X-100 treatment of the insoluble cell fraction. hFADS2 possesses FADS activity and has a strict requirement for MgCl(2), as demonstrated in a spectrophotometric assay [1].
  • Delta-6 Desaturase (D6D) and Delta-5 desaturase (D5D) are the key enzymes for the synthesis of highly unsaturated fatty acids (HUFAs), such as arachidonic acid (20:4, n -6) and docosahexaenoic acid (22:6, n -3), that are incorporated in phospholipids (PLs) and perform essential physiological functions [7].
  • The maize fad2 cDNAs showed an amino-acid identity of 67-77% to fad2 of Glycine, Arabidopsis and Brassica species [8].
  • The identification of SREBP-1c as a key regulator of D6D suggests that the major physiological function of SREBP-1c in liver may be the regulation of phospholipid synthesis rather than triglyceride synthesis [13].
  • In meat eaters or omnivores which can acquire arachidonic acid from food, the main consequences of D6D loss will be deficiencies of GLA, dihomogamma-linolenic acid (DGLA) and prostaglandin (PG) E1 [12].

Other interactions of FADS2


  1. Over-expression in Escherichia coli, purification and characterization of isoform 2 of human FAD synthetase. Galluccio, M., Brizio, C., Torchetti, E.M., Ferranti, P., Gianazza, E., Indiveri, C., Barile, M. Protein Expr. Purif. (2007) [Pubmed]
  2. Fatty acid composition of serum lipids predicts the development of the metabolic syndrome in men. Warensjö, E., Risérus, U., Vessby, B. Diabetologia (2005) [Pubmed]
  3. Delta-6-desaturase activity of human liver microsomes from patients with different types of liver injury. Biagi, P.L., Hrelia, S., Stefanini, G.F., Zunarelli, P., Bordoni, A. Prostaglandins Leukot. Essent. Fatty Acids (1990) [Pubmed]
  4. A nucleotide insertion in the transcriptional regulatory region of FADS2 gives rise to human fatty acid delta-6-desaturase deficiency. Nwankwo, J.O., Spector, A.A., Domann, F.E. J. Lipid Res. (2003) [Pubmed]
  5. Identification of the delta-6 desaturase of human sebaceous glands: expression and enzyme activity. Ge, L., Gordon, J.S., Hsuan, C., Stenn, K., Prouty, S.M. J. Invest. Dermatol. (2003) [Pubmed]
  6. Dual regulation of mouse Delta(5)- and Delta(6)-desaturase gene expression by SREBP-1 and PPARalpha. Matsuzaka, T., Shimano, H., Yahagi, N., Amemiya-Kudo, M., Yoshikawa, T., Hasty, A.H., Tamura, Y., Osuga, J., Okazaki, H., Iizuka, Y., Takahashi, A., Sone, H., Gotoda, T., Ishibashi, S., Yamada, N. J. Lipid Res. (2002) [Pubmed]
  7. Gene regulation of mammalian desaturases. Nakamura, M.T., Nara, T.Y. Biochem. Soc. Trans. (2002) [Pubmed]
  8. Sequence variation and genomic organization of fatty acid desaturase-2 (fad2) and fatty acid desaturase-6 (fad6) cDNAs in maize. Mikkilineni, V., Rocheford, T.R. Theor. Appl. Genet. (2003) [Pubmed]
  9. Examination of polyclonal rabbit immune sera against serovars of Acinetobacter baumannii and genospecies 3 for cross-reactions with reference strains of other named/unnamed genospecies of Acinetobacter. Traub, W.H. Zentralbl. Bakteriol. (2000) [Pubmed]
  10. Metabolism and functions of highly unsaturated fatty acids: an update. Nakamura, M.T., Cho, H.P., Xu, J., Tang, Z., Clarke, S.D. Lipids (2001) [Pubmed]
  11. Essential fatty acids in breast milk of atopic mothers: comparison with non-atopic mothers, and effect of borage oil supplementation. Thijs, C., Houwelingen, A., Poorterman, I., Mordant, A., van den Brandt, P. European journal of clinical nutrition. (2000) [Pubmed]
  12. Loss of delta-6-desaturase activity as a key factor in aging. Horrobin, D.F. Med. Hypotheses (1981) [Pubmed]
  13. Essential fatty acid synthesis and its regulation in mammals. Nakamura, M.T., Nara, T.Y. Prostaglandins Leukot. Essent. Fatty Acids (2003) [Pubmed]
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