FADS2

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Fatty acid desaturase 2
Identifiers
Symbols FADS2 ; D6D; DES6; FADSD6; LLCDL2; SLL0262; TU13
External IDs OMIM606149 MGI1930079 HomoloGene3149 ChEMBL: 6097 GeneCards: FADS2 Gene
EC number 1.14.19.-
Orthologs
Species Human Mouse
Entrez 9415 56473
Ensembl ENSG00000134824 ENSMUSG00000024665
UniProt O95864 Q9Z0R9
RefSeq (mRNA) NM_004265 NM_019699
RefSeq (protein) NP_004256 NP_062673
Location (UCSC) Chr 11:
61.56 – 61.63 Mb
Chr 19:
10.06 – 10.1 Mb
PubMed search [1] [2]

Fatty acid desaturase 2 (FADS2) also known as delta(6) fatty acid desaturase (D6D) is an enzyme that in humans is encoded by the FADS2 gene.[1][2]

Function[edit]

Fatty acid desaturase 2 is a member of the fatty acid desaturase (FADS) gene family. Desaturase enzymes cause desaturation 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.[1]

Clinical significance[edit]

It was reported the FADS2 interacts with breastfeeding such that breast-fed children with the "C" version of the gene appear about 7 intelligence quotient (IQ) points higher than those with the less common "G" version (less than this when adjusted for maternal IQ).[3][4]

An attempt to replicate this study in 5934 8 year old children failed: No relationship of the common C allele to negative effects of formula feeding was apparent, and contra to the original report, the rare GG homozygote children performed worse when formula fed than other children on formula milk.[5] A study of over 700 families recently found no evidence for either main or moderating effects of the original SNP (rs174575), nor of two additional FADS2 polymorphisms (rs1535 and rs174583), nor any effect of maternal FADS2 status on offspring IQ.[6]

References[edit]

  1. ^ a b "Entrez Gene: FADS1 fatty acid desaturase 1". 
  2. ^ Marquardt A, Stöhr H, White K, Weber BH (June 2000). "cDNA cloning, genomic structure, and chromosomal localization of three members of the human fatty acid desaturase family". Genomics 66 (2): 175–83. doi:10.1006/geno.2000.6196. PMID 10860662. 
  3. ^ Gene governs IQ boost from breastfeeding.
  4. ^ Caspi A, Williams B, Kim-Cohen J, Craig IW, Milne BJ, Poulton R, Schalkwyk LC, Taylor A, Werts H, Moffitt TE (November 2007). "Moderation of breastfeeding effects on the IQ by genetic variation in fatty acid metabolism". Proc. Natl. Acad. Sci. U.S.A. 104 (47): 18860–5. doi:10.1073/pnas.0704292104. PMC 2141867. PMID 17984066. 
  5. ^ Steer CD, Davey Smith G, Emmett PM, Hibbeln JR, Golding J (2010). "FADS2 polymorphisms modify the effect of breastfeeding on child IQ". PLoS ONE 5 (7): e11570. doi:10.1371/journal.pone.0011570. PMC 2903485. PMID 20644632. 
  6. ^ Martin NW, Benyamin B, Hansell NK, Montgomery GW, Martin NG, Wright MJ, Bates TC (January 2011). "Cognitive function in adolescence: testing for interactions between breast-feeding and FADS2 polymorphisms". J Am Acad Child Adolesc Psychiatry 50 (1): 55–62.e4. doi:10.1016/j.jaac.2010.10.010. PMID 21156270. 

Further reading[edit]