首页|Cation Channel Activity of Apolipoprotein L1 is Modulated by Haplotype Background
Cation Channel Activity of Apolipoprotein L1 is Modulated by Haplotype Background
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NSTL
Amer Soc Nephrology
Two variants in apolipoprotein L1 (ApoL1) are known to be responsible for the increased risk of progressive proteinuric kidney disease in people of recent African ancestry. Wild-type ApoL1 protein (designated GO) is an amphipathic protein that can insert into lipid membranes at low pH, where it increases anion permeability; on titration back to neutral, the permeability transitions to cation selectivity. The two kidney disease-associated variants (designated G1 and G2) show increased cation selective channel activity. In addition to G1 and G2, there are other ApoLl protein isoforms, not known to be involved in kidney disease, which are inherited as distinct haplotypes. Three of these haplotypes, designated KIK, EIK, and EMR, account for the majority of protein isoforms in the human population (Supplemental Table 1 and Supplemental Appendix 1). KIK is the most prevalent worldwide. EIK is the most common haplotype in people of African ancestry and is absent from other populations; G1 and G2 variants are only naturally found in the EIK background. EMR (the GenBank refseq, thought to be of Neanderthal origin) is most frequently encountered in European populations.
Rebecca L. Winkler、Jonathan Bruno、Paula Buchanan、John C. Edwards
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Division of Nephrology, Saint Louis University, St. Louis, Missouri
NSTL
Amer Soc Nephrology
