FADS1 fatty acid desaturase 1
Gene ID: 3992, updated on 2-Nov-2024Gene type: protein coding
Also known as: D5D; TU12; FADS6; FADSD5; LLCDL1
Summary
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. [provided by RefSeq, Jul 2008]
Associated conditions
Description | Tests |
---|---|
A genome-wide approach accounting for body mass index identifies genetic variants influencing fasting glycemic traits and insulin resistance. GeneReviews: Not available | |
A genome-wide assessment of variability in human serum metabolism. GeneReviews: Not available | |
A genome-wide association study of the metabolic syndrome in Indian Asian men. GeneReviews: Not available | |
A genome-wide perspective of genetic variation in human metabolism. GeneReviews: Not available | |
An atlas of genetic influences on human blood metabolites. GeneReviews: Not available | |
Biological, clinical and population relevance of 95 loci for blood lipids. GeneReviews: Not available | |
Bivariate genome-wide association study suggests fatty acid desaturase genes and cadherin DCHS2 for variation of both compressive strength index and appendicular lean mass in males. GeneReviews: Not available | |
Common variants at 30 loci contribute to polygenic dyslipidemia. GeneReviews: Not available | |
Discovery and refinement of loci associated with lipid levels. GeneReviews: Not available | |
Genetic loci associated with plasma phospholipid n-3 fatty acids: a meta-analysis of genome-wide association studies from the CHARGE Consortium. GeneReviews: Not available | |
Genetic variants associated with glycine metabolism and their role in insulin sensitivity and type 2 diabetes. GeneReviews: Not available | |
Genetic variants influencing circulating lipid levels and risk of coronary artery disease. GeneReviews: Not available | |
Genetics meets metabolomics: a genome-wide association study of metabolite profiles in human serum. GeneReviews: Not available | |
Genetics of rheumatoid arthritis contributes to biology and drug discovery. GeneReviews: Not available | |
Genome-wide association analysis identifies multiple loci related to resting heart rate. GeneReviews: Not available | |
Genome-wide association analysis of metabolic traits in a birth cohort from a founder population. GeneReviews: Not available | |
Genome-wide association meta-analysis identifies novel variants associated with fasting plasma glucose in East Asians. GeneReviews: Not available | |
Genome-wide association of lipid-lowering response to statins in combined study populations. GeneReviews: Not available | |
Genome-wide association study identifies loci influencing concentrations of liver enzymes in plasma. GeneReviews: Not available | |
Genome-wide association study identifies multiple loci influencing human serum metabolite levels. GeneReviews: Not available | |
Genome-wide association study identifies novel loci associated with circulating phospho- and sphingolipid concentrations. GeneReviews: Not available | |
Genome-wide association study identifies novel loci associated with concentrations of four plasma phospholipid fatty acids in the de novo lipogenesis pathway: results from the Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) consortiu GeneReviews: Not available | |
Genome-wide association study identifies three susceptibility loci for laryngeal squamous cell carcinoma in the Chinese population. GeneReviews: Not available | |
Genome-wide association study of plasma N6 polyunsaturated fatty acids within the cohorts for heart and aging research in genomic epidemiology consortium. GeneReviews: Not available | |
Genome-wide association study of serum albumin:globulin ratio in Korean populations. GeneReviews: Not available | |
Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci. GeneReviews: Not available | |
Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease. GeneReviews: Not available | |
Human metabolic individuality in biomedical and pharmaceutical research. GeneReviews: Not available | |
Identification of heart rate-associated loci and their effects on cardiac conduction and rhythm disorders. GeneReviews: Not available | |
Large-scale genetic study in East Asians identifies six new loci associated with colorectal cancer risk. GeneReviews: Not available | |
Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci. GeneReviews: Not available | |
New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes risk. GeneReviews: Not available | |
Novel Loci for metabolic networks and multi-tissue expression studies reveal genes for atherosclerosis. GeneReviews: Not available |
Genomic context
- Location:
- 11q12.2
- Sequence:
- Chromosome: 11; NC_000011.10 (61799627..61817003, complement)
- Total number of exons:
- 13
Variation
Resource | Links for this gene |
---|---|
SNP | Variation Viewer for FADS1 variants |
Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.