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  2. FDFT1 - farnesyl-diphosphate farnesyltransferase 1 Gene

FDFT1 - farnesyl-diphosphate farnesyltransferase 1 Gene

Homo sapiens

Also known as SS; SQS; DGPT; ERG9; SQSD

Gene ID: 2222 | Gene type: protein coding

About FDFT1

Cytogenetic location: 8p23.1 Genomic coordinates (GRCh38): 8:11,795,582-11,839,309 (from NCBI)

This gene has 26 transcripts (splice variants), 1 gene allele, 218 orthologues and is associated with 3 phenotypes. Ubiquitous expression in testis (RPKM 32.6), colon (RPKM 26.2) and 25 other tissues.

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. [provided by RefSeq, Jul 2008]

FDFT1 Products(11)

mRNA Protein Name
NM_001287742.2 NP_001274671.1 squalene synthase isoform 1
NM_001287743.2 NP_001274672.1 squalene synthase isoform 1
NM_001287744.2 NP_001274673.1 squalene synthase isoform 2
NM_001287745.2 NP_001274674.1 squalene synthase isoform 2
NM_001287747.1 NP_001274676.1 squalene synthase isoform 2
NM_001287748.1 NP_001274677.1 squalene synthase isoform 2
NM_001287749.2 NP_001274678.1 squalene synthase isoform 2
NM_001287750.2 NP_001274679.1 squalene synthase isoform 3
NM_001287751.2 NP_001274680.1 squalene synthase isoform 4
NM_001287756.2 NP_001274685.1 squalene synthase isoform 5
NM_004462.5 NP_004453.3 squalene synthase isoform 1

FDFT1 Protein Structure

SQS_PSY

SQS_PSY: Squalene/phytoene synthase (48 - 318)

  • 0
  • 100
  • 200
  • 300
  • 417 a.a.
Protein Preferred Names Protein Names

squalene synthase

FPP:FPP farnesyltransferase

Recombinant FDFT1 Proteins

Cat. No. Product Name Accession Purity
HY-P72193 FDFT1 Protein, Human (His) P37268 (E2-H417) ≥95%

Related Diseases

Diseases Alias
Squalene Synthase Deficiency

SQSD

Neurodevelopmental Disorder With Low Cholesterol And Abnormal Urine Organic Acids

Smith-Lemli-Opitz Syndrome

SLOS

Rsh Syndrome

7-Dehydrocholesterol Reductase Deficiency

Slo Syndrome

Rutledge Lethal Multiple Congenital Anomaly Syndrome

Lethal Acrodysgenital Syndrome

Polydactyly, Sex Reversal, Renal Hypoplasia, And Unilobar Lung

Smith-Opitz-Inborn Syndrome

Polydactyly, Sex Reversal, Renal Hypoplasia, And Unilobular Lung

Smith Lemli Opitz Syndrome

Smith-Lemli-Opitz Syndrome, Type Ii

Chagas Disease

American Trypanosomiasis

Chagas' Disease

Chagas' Disease With Digestive System Involvement

Chagas' Disease With Nervous System Involvement

Chagas' Disease With Other Organ Involvement

Infection Due To Trypanosoma Cruzi

South American Trypanosomiasis

Chronic Chagas Disease With Digestive System Involvement

Mature Cataract

Total Or Mature Cataract

Total, Mature Senile Cataract

Myopathy

Muscular Diseases

Myopathies

Body Mass Index Quantitative Trait Locus 11

OBESITY

Obesity, Susceptibility To

Leanness, Inherited

Obesity, Susceptibility To, Bmiq11

Obesity, Mild, Early-Onset

Obesity, Association With

Obesity, Early-Onset, Susceptibility To

Obesity, Severe

Obesity, Severe, And Type Ii Diabetes

Obesity, Late-Onset

Obesity , Susceptibility To

BMIQ11

Obesity Bmiq11

Obesity, Early-Onset

Simple Obesity Nos

Excess Fat

Obesity, Not Elsewhere Classified, Body Mass Index Not Elsewhere Classified

Adiposis

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Bos taurus FDFT1 VGNC VGNC:56966
Mus musculus FDFT1 MGD MGI:102706
Rattus norvegicus FDFT1 RGD RGD:61834
Canis familiaris FDFT1 VGNC VGNC:40811
Felis catus FDFT1 VGNC VGNC:62220
Macaca mulatta FDFT1 VGNC VGNC:72631
Others FDFT1 NCBI