rs1807243155

This variant is located in the FDFT1 gene.

ClinVar annotation

Uncertain Significance☆☆☆
1 submitter1 publication

Squalene synthase deficiency

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About FDFT1

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]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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