Farnesyl-diphosphate farnesyltransferase 1

Farnesyl-diphosphate farnesyltransferase 1 (FDFT1) is an enzyme that in humans is encoded by the FDFT1 gene. This enzyme is a key player in the mevalonate pathway, a metabolic pathway that produces cholesterol and other isoprenoids.

Function

FDFT1 is an enzyme that catalyzes the formation of squalene from farnesyl diphosphate (FPP). This is the first committed step in sterol biosynthesis. The enzyme uses FPP and another molecule of isopentenyl diphosphate (IPP) to produce squalene.

Clinical significance

Mutations in the FDFT1 gene have been associated with Desmosterolosis, a rare autosomal recessive disorder characterized by multiple congenital anomalies and elevated levels of the cholesterol precursor desmosterol in plasma and tissues.

Structure

The FDFT1 gene is located on the long (q) arm of chromosome 8 at position 24.1. The structure of the enzyme consists of a single polypeptide chain with a molecular weight of approximately 43 kDa.

See also

• Farnesyl diphosphate
• Squalene
• Mevalonate pathway
• Cholesterol

External links

• GeneCards: FDFT1

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