FDFT1 catalyzes the first step in the cholesterol biosynthetic pathway, the conversion of trans-farnesyldiphosphate to squalene. The loss of promoter activity and response to sterols for FDFT1 is localized to a 69-bp section positioned 131 bp 5-prime to the transcription start site. Sequence analysis of this region shows that it contains a sterol regulatory element-1 (SRE1) previously identified in other sterol regulated genes and 2 putative NF1 binding sites.
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Protein Aliases: Farnesyl-diphosphate farnesyltransferase; Farnesyl-diphosphate farnesyltransferase 1; FPP:FPP farnesyltransferase; presqualene-di-diphosphate synthase; SQS; Squalene synthase; squalene synthetase
Gene Aliases: DGPT; ERG9; FDFT1; SQS; SS
UniProt ID: (Human) P37268
Entrez Gene ID: (Human) 2222
Molecular Function: transferase