FDFT1

Chr 8p23.1

farnesyl-diphosphate farnesyltransferase 1

Aliases:: SQS
MANE:: ENST00000220584.9

OMIM: 184420 ↗NCBI: 2222 ↗Ensembl ↗

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Predicted protein structure

AlphaFold predicted structure

FDFT1 · P37268

v62025-08-01

Predicted Aligned Error matrix for FDFT1 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

89.1/ 100

Confident

417 residues

Confidence breakdown

Very high(≥ 90)73%
Confident(70–90)11%
Low(50–70)13%
Very low(< 50)3%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Moderate Evidence (Amber)

Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomal
Intellectual disability
BIALLELIC, autosomal or pseudoautosomal
DDG2P
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

squalene synthase deficiency
0.51
Hypercholesterolemia
0.40
inherited lipid metabolism disorder
0.32
Abnormality of the skeletal system
0.28
type 2 diabetes mellitus
0.26
familial hyperlipidemia
0.26
myopathy
0.22
neurodegenerative disease
0.21
biliary tract disorder
0.18
colorectal carcinoma
0.18

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Squalene synthase

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