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. [provided by RefSeq, Jul 2008] See more...

Aliases for FDFT1 Gene

Aliases for FDFT1 Gene

  • Farnesyl-Diphosphate Farnesyltransferase 1 2 3 4 5
  • Squalene Synthase 2 3 4
  • SQS 2 3 4
  • FPP:FPP Farnesyltransferase 3 4
  • EC 2.5.1.21 4 51
  • SS 3 4
  • Farnesyl-Diphosphate Farnesyltransferase 4
  • Presqualene-Di-Diphosphate Synthase 3
  • Squalene Synthetase 3
  • FDFT1 5
  • DGPT 3
  • ERG9 3
  • SQSD 3

External Ids for FDFT1 Gene

Previous GeneCards Identifiers for FDFT1 Gene

  • GC08P011723
  • GC08P011524
  • GC08P011697
  • GC08P010591
  • GC08P011653

Summaries for FDFT1 Gene

Entrez Gene Summary for FDFT1 Gene

  • 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. [provided by RefSeq, Jul 2008]

GeneCards Summary for FDFT1 Gene

FDFT1 (Farnesyl-Diphosphate Farnesyltransferase 1) is a Protein Coding gene. Diseases associated with FDFT1 include Squalene Synthase Deficiency and Smith-Lemli-Opitz Syndrome. Among its related pathways are cholesterol biosynthesis III (via desmosterol) and Sterol Regulatory Element-Binding Proteins (SREBP) signalling. Gene Ontology (GO) annotations related to this gene include oxidoreductase activity and farnesyl-diphosphate farnesyltransferase activity.

UniProtKB/Swiss-Prot Summary for FDFT1 Gene

  • Catalyzes the condensation of 2 farnesyl pyrophosphate (FPP) moieties to form squalene. Proceeds in two distinct steps. In the first half-reaction, two molecules of FPP react to form the stable presqualene diphosphate intermediate (PSQPP), with concomitant release of a proton and a molecule of inorganic diphosphate. In the second half-reaction, PSQPP undergoes heterolysis, isomerization, and reduction with NADPH or NADH to form squalene. It is the first committed enzyme of the sterol biosynthesis pathway.

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for FDFT1 Gene

Genomics for FDFT1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for FDFT1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around FDFT1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for FDFT1

Top Transcription factor binding sites by QIAGEN in the FDFT1 gene promoter:
  • AML1a
  • CREB
  • deltaCREB
  • ER-alpha
  • Lmo2
  • POU2F1a
  • STAT5A
  • TBP
  • XBP-1

Genomic Locations for FDFT1 Gene

Genomic Locations for FDFT1 Gene
chr8:11,795,573-11,839,309
(GRCh38/hg38)
Size:
43,737 bases
Orientation:
Plus strand
chr8:11,653,082-11,696,818
(GRCh37/hg19)
Size:
43,737 bases
Orientation:
Plus strand

Genomic View for FDFT1 Gene

Genes around FDFT1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
FDFT1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for FDFT1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for FDFT1 Gene

Proteins for FDFT1 Gene

  • Protein details for FDFT1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P37268-FDFT_HUMAN
    Recommended name:
    Squalene synthase
    Protein Accession:
    P37268
    Secondary Accessions:
    • B3KQ95
    • B4DJE5
    • B4DT56
    • B7Z1J3
    • Q96GT0

    Protein attributes for FDFT1 Gene

    Size:
    417 amino acids
    Molecular mass:
    48115 Da
    Cofactor:
    Name=Mg(2+); Xref=ChEBI:CHEBI:18420;
    Quaternary structure:
    No Data Available

    Three dimensional structures from OCA and Proteopedia for FDFT1 Gene

    Alternative splice isoforms for FDFT1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for FDFT1 Gene

Selected DME Specific Peptides for FDFT1 Gene

P37268:
  • FCAIPQVMAI
  • SLKTCYKYL
  • SRSFAAVI
  • YCHYVAGLVG
  • FLQKTNIIRD
  • FYLVLRALDT

Post-translational modifications for FDFT1 Gene

  • Ubiquitination at Lys5, Lys117, Lys93, Lys138, Lys30, Lys41, Lys45, Lys170, Lys213, Lys318, and Lys358
  • Modification sites at PhosphoSitePlus

Domains & Families for FDFT1 Gene

Gene Families for FDFT1 Gene

IUPHAR :
Human Protein Atlas (HPA):
  • Enzymes
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for FDFT1 Gene

Suggested Antigen Peptide Sequences for FDFT1 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ33164 fis, clone UTERU2000542, highly similar to Squalene synthetase (EC 2.5.1.21) (B3KQ95_HUMAN)
  • cDNA FLJ50548, highly similar to Squalene synthetase (EC 2.5.1.21) (B4DJE5_HUMAN)
  • cDNA, FLJ79433, highly similar to Squalene synthetase (EC 2.5.1.21) (B4DT56_HUMAN)
  • cDNA, FLJ79430, highly similar to Squalene synthetase (EC 2.5.1.21) (B7Z1J3_HUMAN)
  • Farnesyl-diphosphate farnesyltransferase (FDFT_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P37268

UniProtKB/Swiss-Prot:

FDFT_HUMAN :
  • Belongs to the phytoene/squalene synthase family.
Family:
  • Belongs to the phytoene/squalene synthase family.
genes like me logo Genes that share domains with FDFT1: view

Function for FDFT1 Gene

Molecular function for FDFT1 Gene

UniProtKB/Swiss-Prot Function:
Catalyzes the condensation of 2 farnesyl pyrophosphate (FPP) moieties to form squalene. Proceeds in two distinct steps. In the first half-reaction, two molecules of FPP react to form the stable presqualene diphosphate intermediate (PSQPP), with concomitant release of a proton and a molecule of inorganic diphosphate. In the second half-reaction, PSQPP undergoes heterolysis, isomerization, and reduction with NADPH or NADH to form squalene. It is the first committed enzyme of the sterol biosynthesis pathway.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=2 (2E,6E)-farnesyl diphosphate + H(+) + NADPH = 2 diphosphate + NADP(+) + squalene; Xref=Rhea:RHEA:32295, ChEBI:CHEBI:15378, ChEBI:CHEBI:15440, ChEBI:CHEBI:33019, ChEBI:CHEBI:57783, ChEBI:CHEBI:58349, ChEBI:CHEBI:175763; EC=2.5.1.21; Evidence={ECO:0000269|PubMed:10896663};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=2 (2E,6E)-farnesyl diphosphate + H(+) + NADH = 2 diphosphate + NAD(+) + squalene; Xref=Rhea:RHEA:32299, ChEBI:CHEBI:15378, ChEBI:CHEBI:15440, ChEBI:CHEBI:33019, ChEBI:CHEBI:57540, ChEBI:CHEBI:57945, ChEBI:CHEBI:175763; EC=2.5.1.21; Evidence={ECO:0000269|PubMed:10896663};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=2 (2E,6E)-farnesyl diphosphate = diphosphate + presqualene diphosphate; Xref=Rhea:RHEA:22672, ChEBI:CHEBI:33019, ChEBI:CHEBI:57310, ChEBI:CHEBI:175763; Evidence={ECO:0000269|PubMed:10896663, ECO:0000269|PubMed:24531458};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=H(+) + NADH + presqualene diphosphate = diphosphate + NAD(+) + squalene; Xref=Rhea:RHEA:22228, ChEBI:CHEBI:15378, ChEBI:CHEBI:15440, ChEBI:CHEBI:33019, ChEBI:CHEBI:57310, ChEBI:CHEBI:57540, ChEBI:CHEBI:57945; Evidence={ECO:0000269|PubMed:10896663, ECO:0000269|PubMed:24531458};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=H(+) + NADPH + presqualene diphosphate = diphosphate + NADP(+) + squalene; Xref=Rhea:RHEA:22232, ChEBI:CHEBI:15378, ChEBI:CHEBI:15440, ChEBI:CHEBI:33019, ChEBI:CHEBI:57310, ChEBI:CHEBI:57783, ChEBI:CHEBI:58349; Evidence={ECO:0000269|PubMed:10896663, ECO:0000269|PubMed:24531458};.
GENATLAS Biochemistry:
farnesyl diphosphate,farnesyltransferase

Enzyme Numbers (IUBMB) for FDFT1 Gene

Phenotypes From GWAS Catalog for FDFT1 Gene

Gene Ontology (GO) - Molecular Function for FDFT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003824 catalytic activity IEA --
GO:0004310 farnesyl-diphosphate farnesyltransferase activity IBA 21873635
GO:0005515 protein binding IPI 25910212
GO:0016740 transferase activity IEA --
GO:0016765 transferase activity, transferring alkyl or aryl (other than methyl) groups IEA --
genes like me logo Genes that share ontologies with FDFT1: view
genes like me logo Genes that share phenotypes with FDFT1: view

Animal Models for FDFT1 Gene

MGI Knock Outs for FDFT1:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for FDFT1

Clone Products

  • Addgene plasmids for FDFT1

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for FDFT1 Gene

Localization for FDFT1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for FDFT1 Gene

Endoplasmic reticulum membrane. Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for FDFT1 gene
Compartment Confidence
endoplasmic reticulum 5
plasma membrane 3
nucleus 3
cytosol 3
extracellular 2
cytoskeleton 2
mitochondrion 2
peroxisome 2
lysosome 2
golgi apparatus 2
endosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Endoplasmic reticulum (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for FDFT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005783 endoplasmic reticulum IEA,IDA --
GO:0005789 endoplasmic reticulum membrane TAS --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane TAS,IEA --
GO:0043231 intracellular membrane-bounded organelle IEA --
genes like me logo Genes that share ontologies with FDFT1: view

Pathways & Interactions for FDFT1 Gene

genes like me logo Genes that share pathways with FDFT1: view

UniProtKB/Swiss-Prot P37268-FDFT_HUMAN

  • Pathway: Terpene metabolism; lanosterol biosynthesis; lanosterol from farnesyl diphosphate: step 1/3.

Gene Ontology (GO) - Biological Process for FDFT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006629 lipid metabolic process IEA --
GO:0006694 steroid biosynthetic process TAS 8474436
GO:0006695 cholesterol biosynthetic process IBA,TAS --
GO:0006696 ergosterol biosynthetic process IEA --
GO:0008152 metabolic process IEA --
genes like me logo Genes that share ontologies with FDFT1: view

No data available for SIGNOR curated interactions for FDFT1 Gene

Drugs & Compounds for FDFT1 Gene

(44) Drugs for FDFT1 Gene - From: DrugBank, DGIdb, IUPHAR, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Magnesium Approved, Experimental, Investigational Pharma 0
Phosphoric acid Approved Pharma 0
farnesyl diphosphate Experimental Pharma Antagonist, Agonist 0
NADPH Experimental Pharma 0
NAD Experimental Pharma Agonist, Full agonist, Activator 0

(21) Additional Compounds for FDFT1 Gene - From: Novoseek, IUPHAR, and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Presqualene diphosphate
  • [(1R,2R,3R)-2-[(e)-4,8-Dimethylnona-3,7-dienyl]-2-methyl-3-[(2E,6E)-2,6,10-trimethylundeca-1,5,9-trienyl]cyclopropan-1-yl]methyl diphosphate
  • [(1R,2R,3R)-2-[(e)-4,8-Dimethylnona-3,7-dienyl]-2-methyl-3-[(2E,6E)-2,6,10-trimethylundeca-1,5,9-trienyl]cyclopropan-1-yl]methyl diphosphoric acid
  • Presqualene diphosphoric acid
  • (1alpha,2beta(e),3beta(1E,5E))-Diphosphoric acid mono((2-(4,8-dimethyl-3,7-nonadienyl)-2-methyl-3-(2,6,10-trimethyl-1,5,9-undecatrienyl)cyclopropyl)methyl) ester
  • Presqualene pyrophosphate
29849-75-0
pyrophosphate
  • [(ho)2P(O)OP(O)(OH)2]
  • Acide diphosphorique
  • Diphosphorsaeure
  • H4P2O7
  • PYROphosphATE
14000-31-8
({[3-(3-phenoxyphenyl)propyl]carbamoyl}methyl)phosphonate
Inhibitor, Inhibition
1-allyl-2-[3-(benzylamino)propoxy]-9H-carbazole
Inhibitor, Inhibition
Hydrogen Ion
  • H+
  • H(+)
  • Hydrogen cation
  • Hydron
  • Proton
genes like me logo Genes that share compounds with FDFT1: view

Transcripts for FDFT1 Gene

mRNA/cDNA for FDFT1 Gene

11 REFSEQ mRNAs :
35 NCBI additional mRNA sequence :
26 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for FDFT1

Clone Products

  • Addgene plasmids for FDFT1

Alternative Splicing Database (ASD) splice patterns (SP) for FDFT1 Gene

ExUns: 1a · 1b · 1c · 1d · 1e ^ 2a · 2b ^ 3a · 3b · 3c ^ 4 ^ 5 ^ 6a · 6b ^ 7 ^ 8a · 8b · 8c ^ 9 ^ 10 ^ 11
SP1: - - - - - -
SP2:
SP3: -
SP4: - - -
SP5: - - - - - - - - - - - -
SP6: - -

Relevant External Links for FDFT1 Gene

GeneLoc Exon Structure for
FDFT1

Expression for FDFT1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for FDFT1 Gene

Protein differential expression in normal tissues from HIPED for FDFT1 Gene

This gene is overexpressed in Fetal testis (32.0) and Bone (26.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for FDFT1 Gene



Protein tissue co-expression partners for FDFT1 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for FDFT1

SOURCE GeneReport for Unigene cluster for FDFT1 Gene:

Hs.593928

mRNA Expression by UniProt/SwissProt for FDFT1 Gene:

P37268-FDFT_HUMAN
Tissue specificity: Widely expressed.

Evidence on tissue expression from TISSUES for FDFT1 Gene

  • Nervous system(5)
  • Lung(4.8)
  • Liver(4.7)
  • Muscle(4.6)
  • Skin(4.4)
  • Blood(4.4)
  • Intestine(4.3)
  • Eye(3.4)
  • Pancreas(3.1)
  • Kidney(2.7)
  • Heart(2.7)
  • Stomach(2.4)
  • Thyroid gland(2.3)
  • Lymph node(2.3)
  • Adrenal gland(2.3)
  • Spleen(2.3)
  • Bone marrow(2.3)
  • Gall bladder(2.2)
  • Bone(2)
genes like me logo Genes that share expression patterns with FDFT1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for FDFT1 Gene

Orthologs for FDFT1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for FDFT1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia FDFT1 30 31
  • 99.44 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia FDFT1 30 31
  • 89.77 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia FDFT1 30 31
  • 87.77 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Fdft1 30 17 31
  • 85.31 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Fdft1 30
  • 84.42 (n)
Oppossum
(Monodelphis domestica)
Mammalia FDFT1 31
  • 76 (a)
OneToOne
Chicken
(Gallus gallus)
Aves FDFT1 30 31
  • 75.63 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia -- 31
  • 73 (a)
OneToMany
-- 31
  • 68 (a)
OneToMany
-- 31
  • 66 (a)
OneToMany
-- 31
  • 65 (a)
OneToMany
-- 31
  • 64 (a)
OneToMany
-- 31
  • 64 (a)
OneToMany
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia fdft1 30
  • 72.03 (n)
Str.13257 30
Zebrafish
(Danio rerio)
Actinopterygii si:ch73-107c13.2 30
  • 67.25 (n)
FDFT1 31
  • 67 (a)
OneToOne
A. gosspyii yeast
(Eremothecium gossypii)
Saccharomycetes AGOS_AFR444C 30
  • 52.88 (n)
K. Lactis Yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0D08866g 30
  • 50.92 (n)
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ERG9 30 31 33
  • 50.7 (n)
OneToOne
Thale Cress
(Arabidopsis thaliana)
eudicotyledons SQS1 30
  • 50.73 (n)
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.3819 30
Soybean
(Glycine max)
eudicotyledons Gma.8028 30
Rice
(Oryza sativa)
Liliopsida Os07g0200700 30
  • 52.41 (n)
Barley
(Hordeum vulgare)
Liliopsida Hv.10521 30
Corn
(Zea mays)
Liliopsida Zm.13795 30
Fission Yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes erg9 30
  • 53.76 (n)
Bread mold
(Neurospora crassa)
Ascomycetes NCU06054 30
  • 51.77 (n)
Species where no ortholog for FDFT1 was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Platypus (Ornithorhynchus anatinus)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for FDFT1 Gene

ENSEMBL:
Gene Tree for FDFT1 (if available)
TreeFam:
Gene Tree for FDFT1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for FDFT1: view image

Paralogs for FDFT1 Gene

No data available for Paralogs for FDFT1 Gene

Variants for FDFT1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for FDFT1 Gene

SNP ID Clinical significance and condition Chr 08 pos Variation AA Info Type
775083 Benign: not provided 11,821,827(+) G/A SYNONYMOUS_VARIANT,INTRON_VARIANT
778373 Benign: not provided 11,808,875(+) C/T SYNONYMOUS_VARIANT,FIVE_PRIME_UTR_VARIANT,INTRON_VARIANT
778374 Benign: not provided 11,838,552(+) G/A SYNONYMOUS_VARIANT
782853 Likely Benign: not provided 11,808,814(+) G/C SYNONYMOUS_VARIANT,FIVE_PRIME_UTR_VARIANT,INTRON_VARIANT
rs1563290033 Likely Pathogenic: SQUALENE SYNTHASE DEFICIENCY 11,802,585(+) TCTTCCTAGTGTGAGC INTRON_VARIANT

Additional dbSNP identifiers (rs#s) for FDFT1 Gene

Structural Variations from Database of Genomic Variants (DGV) for FDFT1 Gene

Variant ID Type Subtype PubMed ID
esv3572514 CNV loss 25503493
nsv1018042 CNV gain 25217958
nsv1032739 CNV loss 25217958
nsv1034132 CNV gain 25217958
nsv1076058 CNV deletion 25765185
nsv525089 CNV loss 19592680

Variation tolerance for FDFT1 Gene

Residual Variation Intolerance Score: 34.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.67; 57.04% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for FDFT1 Gene

Human Gene Mutation Database (HGMD)
FDFT1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
FDFT1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for FDFT1 Gene

Disorders for FDFT1 Gene

MalaCards: The human disease database

(8) MalaCards diseases for FDFT1 Gene - From: OMIM, ClinVar, GTR, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
squalene synthase deficiency
  • sqsd
smith-lemli-opitz syndrome
  • slos
sitosterolemia
  • phytosterolemia
keratolytic winter erythema
  • kwe
chagas disease
  • american trypanosomiasis
- elite association - COSMIC cancer census association via MalaCards
Search FDFT1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

FDFT_HUMAN
  • Squalene synthase deficiency (SQSD) [MIM:618156]: An autosomal recessive disorder characterized by profound developmental delay, brain abnormalities, 2/3 syndactyly of the toes, facial dysmorphisms, low total and LDL-cholesterol, and abnormal urine organic acids. {ECO:0000269 PubMed:29909962}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for FDFT1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with FDFT1: view

No data available for Genatlas for FDFT1 Gene

Publications for FDFT1 Gene

  1. K45R variant of squalene synthase increases total cholesterol levels in two study samples from a French Canadian population. (PMID: 18350552) Do R … Engert JC (Human mutation 2008) 3 4 23 41
  2. Studies of CTNNBL1 and FDFT1 variants and measures of obesity: analyses of quantitative traits and case-control studies in 18,014 Danes. (PMID: 19245693) Andreasen CH … Hansen T (BMC medical genetics 2009) 3 23 41
  3. Identification of a chromosome 8p locus for early-onset coronary heart disease in a French Canadian population. (PMID: 17805225) Engert JC … Gaudet D (European journal of human genetics : EJHG 2008) 3 23 41
  4. Crystal structure of human squalene synthase. A key enzyme in cholesterol biosynthesis. (PMID: 10896663) Pandit J … Harwood HJ (The Journal of biological chemistry 2000) 3 4 23
  5. Expression, purification, and characterization of the human squalene synthase: use of yeast and baculoviral systems. (PMID: 7864626) Soltis DA … Cornell-Kennon SA (Archives of biochemistry and biophysics 1995) 3 4 23

Products for FDFT1 Gene

Sources for FDFT1 Gene