title: A common Ile796Val polymorphism of the human SREBP cleavage-activating protein (SCAP) gene.
abstract: 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 binding protein (SREBP) cleavage-activating protein (SCAP), a central regulator of 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 polymorphism may be useful for genetic studies of disorders affecting intracellular lipid metabolism and hyperlipidemia.
authors.affiliation: Department of Molecular Biology, Nippon Medical School, Kawasaki, Japan.
authors.forename: K
authors.initials: K
authors.lastname: Iwaki
authors.forename: T
authors.initials: T
authors.lastname: Nakajima
authors.forename: N
authors.initials: N
authors.lastname: Ota
authors.forename: M
authors.initials: M
authors.lastname: Emi
mesh_terms: D006801:Humans; D006949:Hyperlipidemias / Q000235:genetics; D047908:Intracellular Signaling Peptides and Proteins; D050356:Lipid Metabolism; D008565:Membrane Proteins / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide
chemical_list: D047908:Intracellular Signaling Peptides and Proteins; D008565:Membrane Proteins; C102196:SREBP cleavage-activating protein