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A common Ile796Val polymorphism of the human SREBP cleavage-activating protein (SCAP) gene.
- Source :
-
Journal of Human Genetics . 1999, Vol. 44 Issue 6, p421. 2p. - Publication Year :
- 1999
-
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. [ABSTRACT FROM AUTHOR]
- Subjects :
- *AMINO acids
*VALINE
*CARRIER proteins
*GENETIC polymorphisms
*LIPID synthesis
Subjects
Details
- Language :
- English
- ISSN :
- 14345161
- Volume :
- 44
- Issue :
- 6
- Database :
- Academic Search Index
- Journal :
- Journal of Human Genetics
- Publication Type :
- Academic Journal
- Accession number :
- 4688422
- Full Text :
- https://doi.org/10.1007/s100380050193