Standardization of PCR-RFLP analysis of nsSNP rs1468384 of NPC1L1 gene.

ABSTRACT: Niemann-Pick C1-like 1 (NPC1L1) protein, a newly identified sterol influx transporter, located at the apical membrane of the enterocyte, which may actively facilitate the uptake of cholesterol by promoting the passage of sterols across the brush border membrane of the enterocyte. It effects intestinal cholesterol absorption and intracellular transport and as such is an integral part of complex process of cholesterol homeostasis. The study of population data for the distribution of these single nucleotide polymorphisms (SNP) of NPC1L1 has lead to the identification of six non-synonymous single nucleotide polymorphisms (nsSNP). The in vitro analysis using the software MuPro and StructureSNP shows that nsSNP M510I (rs1468384), which involves A-->G base pair change leads to decrease in the sta

SUBMITTER: Balgir PP 

PROVIDER: S-EPMC2840799 | biostudies-literature | 2008 Sep

REPOSITORIES: biostudies-literature