Genomes and Genes
Gene Symbol: Fdft1
Description: farnesyl diphosphate farnesyl transferase 1
Alias: SQS, squalene synthase, FPP:FPP farnesyltransferase, farnesyl-diphosphate farnesyltransferase
- Wong B, Chan J, Cazenave Gassiot A, Poh R, Foo J, Galam D, et al. Mfsd2a Is a Transporter for the Essential Ï‰-3 Fatty Acid Docosahexaenoic Acid (DHA) in Eye and Is Important for Photoreceptor Cell Development. J Biol Chem. 2016;291:10501-14 pubmed publisher..These findings identify LPC transport via Mfsd2a as an important pathway for DHA uptake in eye and for development of photoreceptor membrane discs. ..
- Nwokoro N, Wassif C, Porter F. Genetic disorders of cholesterol biosynthesis in mice and humans. Mol Genet Metab. 2001;74:105-19 pubmed..mevolonate kinase (mevalonic aciduria as well as hyperimmunoglobulinemia D and periodic fever syndrome), squalene synthase (Ss-/- mouse), 3beta-hydroxysteroid Delta14-reductase (hydrops-ectopic calcification-moth-eaten skeletal ..
- Okazaki H, Tazoe F, Okazaki S, Isoo N, Tsukamoto K, Sekiya M, et al. Increased cholesterol biosynthesis and hypercholesterolemia in mice overexpressing squalene synthase in the liver. J Lipid Res. 2006;47:1950-8 pubmedb>Squalene synthase (SS) is the first committed enzyme for cholesterol biosynthesis, located at a branch point in the mevalonate pathway...
- Saher G, Quintes S, Mobius W, Wehr M, Krämer Albers E, Brugger B, et al. Cholesterol regulates the endoplasmic reticulum exit of the major membrane protein P0 required for peripheral myelin compaction. J Neurosci. 2009;29:6094-104 pubmed publisher..This demonstrates that high-level cholesterol coordinates P0 export with myelin membrane synthesis, which is required for the correct stoichiometry of myelin components and for myelin compaction. ..
- Saher G, Rudolphi F, Corthals K, Ruhwedel T, Schmidt K, Lowel S, et al. Therapy of Pelizaeus-Merzbacher disease in mice by feeding a cholesterol-enriched diet. Nat Med. 2012;18:1130-5 pubmed publisher..Dietary cholesterol did not reduce Plp1 overexpression but facilitated incorporation of PLP into myelin membranes. These findings may have implications for therapeutic interventions in patients with PMD. ..
- Shirasawa H, Kinoshita T, Shino Y, Mori K, Shimizu K, Simizu B. Cloning and sequencing of the murine farnesyltransferase alpha-encoding cDNA from a cell line which expresses the human papillomavirus type-16 E6 gene. Gene. 1995;164:373-4 pubmed..Sequence analysis revealed that the murine 1647-bp FTA cDNA encoded 377 amino acid (aa). The murine and human sequences showed 83.2% nucleotide and 92.6% aa sequence identity. ..
- Pandit J, Danley D, Schulte G, Mazzalupo S, Pauly T, Hayward C, et al. Crystal structure of human squalene synthase. A key enzyme in cholesterol biosynthesis. J Biol Chem. 2000;275:30610-7 pubmedb>Squalene synthase catalyzes the biosynthesis of squalene, a key cholesterol precursor, through a reductive dimerization of two farnesyl diphosphate (FPP) molecules...
- Nagashima S, Yagyu H, Tozawa R, Tazoe F, Takahashi M, Kitamine T, et al. Plasma cholesterol-lowering and transient liver dysfunction in mice lacking squalene synthase in the liver. J Lipid Res. 2015;56:998-1005 pubmed publisherb>Squalene synthase (SS) catalyzes the biosynthesis of squalene, the first specific intermediate in the cholesterol biosynthetic pathway...
- Collins B, Tansey T, Shechter I. Comparative squalene synthase gene expression in mouse liver and testis. Arch Biochem Biophys. 2001;395:253-8 pubmedRNA from various mouse organs was analyzed by Northern hybridization to determine the response of squalene synthase (SQS) mRNA to dietary cholesterol, or lovastatin and cholestyramine, administration...
- Myöhänen S, Wahlfors J, Alhonen L, Janne J. Nucleotide sequence of mouse spermidine synthase cDNA. DNA Seq. 1994;4:343-6 pubmed..The open reading frame encoded a polypeptide of 302 amino acids, displaying 95% similarity to human and 33% similarity to E. coli spermidine synthase. The 3' flanking region contained an unusual polyadenylation signal AATACA. ..
- Funfschilling U, Saher G, Xiao L, Mobius W, Nave K. Survival of adult neurons lacking cholesterol synthesis in vivo. BMC Neurosci. 2007;8:1 pubmed..Using conditional gene inactivation in the mouse, we disrupted the squalene synthase gene (fdft1), which is critical for cholesterol synthesis, in cerebellar granule cells and some ..