A common Ile796Val polymorphism of the human SREBP cleavage-activating protein (SCAP) gene

We identified a new common amino acid polymorphism of isoleucine/valine at codon 796 in exon 16 of the gene for human sterol regulatory element bindin g protein (SREBP) cleavage-activating protein (SCAP), a central regulator o f lipid synthesis and metabolism in animal cells. It can be detected as an MslI restriction fragment length polymorphism. The allelic frequencies were : isoleucine (A) allele, 0.57 and valine (G) allele, 0.43. This poly morphi sm may be useful for genetic studies of disorders affecting intracellular l ipid metabolism and hyperlipidemia.