FADS1

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FADS1
Identifiers
Aliases FADS1, D5D, FADS6, FADSD5, LLCDL1, TU12, fatty acid desaturase 1
External IDs MGI: 1923517 HomoloGene: 22753 GeneCards: FADS1
Genetically Related Diseases
disease of metabolism[1]
Orthologs
Species Human Mouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_013402

NM_146094

RefSeq (protein)

NP_037534

NP_666206.1
NP_666206

Location (UCSC) Chr 11: 61.8 – 61.83 Mb Chr 19: 10.18 – 10.2 Mb
PubMed search [2] [3]
Wikidata
View/Edit Human View/Edit Mouse

Fatty acid desaturase 1 is an enzyme that in humans is encoded by the FADS1 gene.[4]

Function[edit]

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.[5] 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.[4]

Clinical significance[edit]

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.[6]

References[edit]

  1. ^ "Diseases that are genetically associated with FADS1 view/edit references on wikidata". 
  2. ^ "Human PubMed Reference:". 
  3. ^ "Mouse PubMed Reference:". 
  4. ^ a b "Entrez Gene: FADS1 fatty acid desaturase 1". 
  5. ^ Brenna, J Thomas (June 2009). "An alternate pathway to long-chain polyunsaturates: the FADS2 gene product Δ8-desaturates 20:2n-6 and 20:3n-3". Journal of Lipid Research. 50 (6): 1195. doi:10.1194/jlr.M800630-JLR200. PMC 2681401Freely accessible. PMID 19202133. 
  6. ^ Lattka, E.; Illig, T.; Heinrich, J.; Koletzko, B. (2009). "FADS Gene Cluster Polymorphisms: Important Modulators of Fatty Acid Levels and Their Impact on Atopic Diseases". Journal of Nutrigenetics and Nutrigenomics. 2 (3): 119–128. doi:10.1159/000235559. PMID 19776639. 

Further reading[edit]