Gene: FDFT1

Alternate names for this Gene: DGPT|ERG9|SQS|SQSD|SS

Gene Summary: This gene encodes a membrane-associated enzyme located at a branch point in the mevalonate pathway. The encoded protein is the first specific enzyme in cholesterol biosynthesis, catalyzing the dimerization of two molecules of farnesyl diphosphate in a two-step reaction to form squalene.

Gene is located in Chromosome: 8

Location in Chromosome : 8p23.1

Description of this Gene: farnesyl-diphosphate farnesyltransferase 1

Type of Gene: protein-coding

rs1616534 in FDFT1 gene and C-reactive protein measurement PMID 30388399 2018 Genome Analyses of >200,000 Individuals Identify 58 Loci for Chronic Inflammation and Highlight Pathways that Link Inflammation and Complex Disorders.

rs6601615 in FDFT1 gene and High density lipoprotein measurement PMID 23063622 2012 Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.

rs2645424 in FDFT1 gene and Liver Cirrhosis PMID 20708005 2010 Genome-wide association study identifies variants associated with histologic features of nonalcoholic Fatty liver disease.

rs2645424 in FDFT1 gene and Non-alcoholic Fatty Liver Disease PMID 20708005 2010 In multivariate models adjusted for age, body mass index, diabetes, waist/hip ratios, and levels of glycated hemoglobin, the NAFLD activity score was associated with the SNP rs2645424 on chromosome 8 in farnesyl diphosphate farnesyl transferase 1 (FDFT1) (P = 6.8 × 10(-7)).

rs1563339323 in FDFT1 gene and SQUALENE SYNTHASE DEFICIENCY PMID 29909962 2018 Squalene Synthase Deficiency: Clinical, Biochemical, and Molecular Characterization of a Defect in Cholesterol Biosynthesis.

rs6601615 in FDFT1 gene and Serum HDL cholesterol measurement PMID 23063622 2012 Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.