Article
Nonsynonymous single nucleotide polymorphisms of NHE3 differentially decrease NHE3 transporter activity.
American journal of physiology. Cell physiology - 1 May 2015
Zhu Xinjun Cindy, Sarker Rafiquel, Horton John R, Chakraborty Molee, Chen Tian-E, Tse C Ming, Cha Boyoung, Donowitz Mark
Abstract excerpt
Genetic determinants appear to play a role in susceptibility to chronic diarrhea, but the genetic abnormalities involved have only been identified in a few conditions. The Na⁺/H⁺ exchanger 3 (NHE3) accounts for a large fraction of physiologic intestinal Na⁺ absorption. It is highly regulated through effects on its intracellular COOH-terminal regulatory domain. The impact of genetic variation in the NHE3 gene,...
Topics
- 8-Bromo Cyclic Adenosine Monophosphate
- Animals
- Biological Transport
- Calcium-Binding Proteins
- Cell Line
- Cell Membrane
- Dexamethasone
- Down-Regulation
- Genotype
- Humans
- Mutation
- Phenotype
- Polymorphism, Single Nucleotide