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

Gene: LOC105379243

Alternate names for this Gene:

Gene Summary:

Gene is located in Chromosome:

Location in Chromosome :

Description of this Gene:

Type of Gene:

rs1563290033 in FDFT1;LOC105379243 gene and SQUALENE SYNTHASE DEFICIENCY PMID 29909962 2018 Squalene Synthase Deficiency: Clinical, Biochemical, and Molecular Characterization of a Defect in Cholesterol Biosynthesis.