SLC12 家族的电中性阳离子耦合氯离子共转运体。

The SLC12 family of electroneutral cation-coupled chloride cotransporters.

机构信息

Molecular Physiology Unit, Instituto de Investigaciones Biomédicas, Universidad Nacional Autónoma de México, and Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán, Mexico.

出版信息

Mol Aspects Med. 2013 Apr-Jun;34(2-3):288-98. doi: 10.1016/j.mam.2012.05.002.

DOI:10.1016/j.mam.2012.05.002

PMID:23506871

Abstract

The SLC12 family encodes electroneutral cation-coupled chloride cotransporters that are critical for several physiological processes including cell volume regulation, modulation of intraneuronal chloride concentration, transepithelial ion movement, and blood pressure regulation. Members of this family are the targets of the most commonly used diuretic drugs, have been shown to be the causative genes for inherited disease such as Gitelman, Bartter and Andermann syndromes, and potentially play a role in polygenic complex diseases like arterial hypertension, epilepsy, osteoporosis, and cancer.

摘要

SLC12 家族编码电中性阳离子偶联氯离子共转运体，对包括细胞体积调节、调节细胞内氯离子浓度、跨上皮离子运动和血压调节在内的多种生理过程至关重要。该家族的成员是最常用的利尿剂药物的靶点，已被证明是遗传疾病如 Gitelman、Bartter 和 Andermann 综合征的致病基因，并可能在多基因复杂疾病如动脉高血压、癫痫、骨质疏松症和癌症中发挥作用。