FADS1

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Fatty acid desaturase 1
Identifiers
Symbols FADS1 ; D5D; FADS6; FADSD5; LLCDL1; TU12
External IDs OMIM606148 MGI1923517 HomoloGene22753 ChEMBL: 5840 GeneCards: FADS1 Gene
EC number 1.14.19.-
Orthologs
Species Human Mouse
Entrez 3992 76267
Ensembl ENSG00000149485 ENSMUSG00000010663
UniProt O60427 Q920L1
RefSeq (mRNA) NM_013402 NM_146094
RefSeq (protein) NP_037534 NP_666206
Location (UCSC) Chr 11:
61.57 – 61.6 Mb
Chr 19:
10.18 – 10.2 Mb
PubMed search [1] [2]

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

Function[edit]

The protein encoded by this gene is a member of the fatty acid desaturase (FADS) gene family. Desaturase enzymes 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.[1]

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. [2]

References[edit]

  1. ^ a b "Entrez Gene: FADS1 fatty acid desaturase 1". 
  2. ^ 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.  edit


Further reading[edit]