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- Title
A common Ile796Val polymorphism of the human SREBP cleavage-activating protein (SCAP) gene.
- Authors
Iwaki, Kikumi; Nakajima, Toshiaki; Ota, Nobutaka; Emi, Mitsuru
- Abstract
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 Ms/I 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.
- Subjects
AMINO acids; VALINE; CARRIER proteins; GENETIC polymorphisms; LIPID synthesis
- Publication
Journal of Human Genetics, 1999, Vol 44, Issue 6, p421
- ISSN
1434-5161
- Publication type
Article
- DOI
10.1007/s100380050193