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.
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Received: August 17, 1999 / Accepted: August 19, 1999
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Iwaki, K., Nakajima, T., Ota, N. et al. A common Ile796Val polymorphism of the human SREBP cleavage-activating protein (SCAP) gene. J Hum Genet 44, 421–422 (1999). https://doi.org/10.1007/s100380050193
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DOI: https://doi.org/10.1007/s100380050193
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