FADS1
Function
The protein encoded by the FADS1 gene is a member of the fatty acid desaturase (FADS) gene family and desaturates omega-3 and omega-6 polyunsaturated fatty acids at the delta-5 position, catalyzing the final step in the formation of eicosapentaenoic acid (EPA) and arachidonic acid.{{cite journal|last1=Brenna|first1=J Thomas|title=An alternate pathway to long-chain polyunsaturates: the FADS2 gene product Δ8-desaturates 20:2n-6 and 20:3n-3|journal=Journal of Lipid Research|date=June 2009|volume=50|issue=6|pages=1195–202|doi=10.1194/jlr.M800630-JLR200 |doi-access=free |pmid=19202133|pmc=2681401}} Desaturase enzymes (such as those encoded by FADS1) regulate unsaturation of fatty acids through the introduction of double bonds between defined carbons of the fatty acyl chain. FADS family members are considered fusion products composed of an N-terminal cytochrome b5-like domain and a C-terminal multiple membrane-spanning desaturase portion, both of which are characterized by conserved histidine motifs. This gene is clustered with family members FADS1 and FADS2 at 11q12-q13.1; this cluster is thought to have arisen evolutionarily from gene duplication based on its similar exon/intron organization.{{cite web | title = Entrez Gene: FADS1 fatty acid desaturase 1| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=3992| accessdate = }}
Clinical significance
Single nucleotide polymorphisms (SNPs) of FADS1 and FADS2 may affect long-chain polyunsaturated fatty acids (LC-PUFA) metabolism and have a potential role in the development of atopic diseases.{{Cite journal
| last1 = Lattka | first1 = E.
| last2 = Illig | first2 = T.
| last3 = Heinrich | first3 = J.
| last4 = Koletzko | first4 = B.
| title = FADS Gene Cluster Polymorphisms: Important Modulators of Fatty Acid Levels and Their Impact on Atopic Diseases
| doi = 10.1159/000235559
| journal = Journal of Nutrigenetics and Nutrigenomics
| volume = 2
| issue = 3
| pages = 119–128
| year = 2009
| pmid = 19776639
| pmc =
| s2cid = 17077710
| url = https://epub.ub.uni-muenchen.de/16661/
| doi-access = free
}}
References
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Further reading
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- {{cite journal | author=Stöhr H |title=A Gene Map of the Best's Vitelliform Macular Dystrophy Region in Chromosome 11q12–q13.1 |journal=Genome Res. |volume=8 |issue= 1 |pages= 48–56 |year= 1998 |pmid= 9445487 |doi= 10.1101/gr.8.1.48| pmc=310689 |name-list-style=vanc| author2=Marquardt A | author3=Rivera A | display-authors=3 | last4=Cooper | first4=PR | last5=Nowak | first5=NJ | last6=Shows | first6=TB | last7=Gerhard | first7=DS | last8=Weber | first8=BH }}
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- {{cite journal | author=Leonard AE |title=cDNA cloning and characterization of human Delta5-desaturase involved in the biosynthesis of arachidonic acid |journal=Biochem. J. |volume=347 Pt 3 |issue= 3|pages= 719–24 |year= 2000 |pmid= 10769175 |doi=10.1042/0264-6021:3470719 | pmc=1221008 |name-list-style=vanc| author2=Kelder B | author3=Bobik EG | display-authors=3 | last4=Chuang | first4=Lu-Te | last5=Parker-Barnes | first5=Jennifer M. | last6=Thurmond | first6=Jennifer M. | last7=Kroeger | first7=Paul E. | last8=Kopchick | first8=John J. | last9=Huang | first9=Yung-Sheng }}
- {{cite journal |vauthors=Marquardt A, Stöhr H, White K, Weber BH |title=cDNA cloning, genomic structure, and chromosomal localization of three members of the human fatty acid desaturase family |journal=Genomics |volume=66 |issue= 2 |pages= 175–83 |year= 2000 |pmid= 10860662 |doi= 10.1006/geno.2000.6196 }}
- {{cite journal | author=Brizio C |title=Over-expression in Escherichia coli and characterization of two recombinant isoforms of human FAD synthetase |journal=Biochem. Biophys. Res. Commun. |volume=344 |issue= 3 |pages= 1008–16 |year= 2006 |pmid= 16643857 |doi= 10.1016/j.bbrc.2006.04.003 |name-list-style=vanc| author2=Galluccio M | author3=Wait R | display-authors=3 | last4=Torchetti | first4=Enza Maria | last5=Bafunno | first5=Valeria | last6=Accardi | first6=Rosita | last7=Gianazza | first7=Elisabetta | last8=Indiveri | first8=Cesare | last9=Barile | first9=Maria }}
- {{cite journal | author=Schaeffer L |title=Common genetic variants of the FADS1 FADS2 gene cluster and their reconstructed haplotypes are associated with the fatty acid composition in phospholipids |journal=Hum. Mol. Genet. |volume=15 |issue= 11 |pages= 1745–56 |year= 2006 |pmid= 16670158 |doi= 10.1093/hmg/ddl117 |name-list-style=vanc| author2=Gohlke H | author3=Müller M | display-authors=3 | last4=Heid | first4=IM | last5=Palmer | first5=LJ | last6=Kompauer | first6=I | last7=Demmelmair | first7=H | last8=Illig | first8=T | last9=Koletzko | first9=B | doi-access=free }}
- {{cite journal | author=Ma J |title=Identifying leukocyte gene expression patterns associated with plasma lipid levels in human subjects |journal=Atherosclerosis |volume=191 |issue= 1 |pages= 63–72 |year= 2007 |pmid= 16806233 |doi= 10.1016/j.atherosclerosis.2006.05.032 |name-list-style=vanc| author2=Dempsey AA | author3=Stamatiou D | display-authors=3 | last4=Marshall | first4=K.Wayne | last5=Liew | first5=Choong-Chin }}
- {{cite journal | author=Dreesen TD |title=A newly discovered member of the fatty acid desaturase gene family: a non-coding, antisense RNA gene to delta5-desaturase |journal=Prostaglandins Leukot. Essent. Fatty Acids |volume=75 |issue= 2 |pages= 97–106 |year= 2006 |pmid= 16846730 |doi= 10.1016/j.plefa.2006.05.001 |name-list-style=vanc| author2=Adamson AW | author3=Tekle M | display-authors=3 | last4=Tang | first4=Chongren | last5=Cho | first5=Hyekung P. | last6=Clarke | first6=Steven D. | last7=Gettys | first7=Thomas W. }}
- {{cite journal | author=Ewing RM |title=Large-scale mapping of human protein–protein interactions by mass spectrometry |journal=Mol. Syst. Biol. |volume=3 |issue= 1|pages= 89 |year= 2007 |pmid= 17353931 |doi= 10.1038/msb4100134 | pmc=1847948 |name-list-style=vanc| author2=Chu P | author3=Elisma F | display-authors=3 | last4=Li | first4=Hongyan | last5=Taylor | first5=Paul | last6=Climie | first6=Shane | last7=McBroom-Cerajewski | first7=Linda | last8=Robinson | first8=Mark D | last9=O'Connor | first9=Liam }}
- {{cite journal | author=Risé P |title=Delta5 desaturase mRNA levels are increased by simvastatin via SREBP-1 at early stages, not via PPARalpha, in THP-1 cells |journal=Eur. J. Pharmacol. |volume=571 |issue= 2–3 |pages= 97–105 |year= 2007 |pmid= 17655842 |doi= 10.1016/j.ejphar.2007.06.021 |name-list-style=vanc| author2=Ghezzi S | author3=Carissimi R | display-authors=3 | last4=Mastromauro | first4=Francesca | last5=Petroni | first5=Anna | last6=Galli | first6=Claudio }}
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