NHERF1 - NHERF family PDZ scaffold protein 1 Gene

中文名称：NHERF 家族 PDZ 支架蛋白 1

种属: Homo sapiens

同用名: EBP50; NHERF; NHE-RF; NHERF-1; NPHLOP2; SLC9A3R1

关于 NHERF1

功能概要

该基因编码钠/氢交换调节辅助因子。该蛋白质与各种蛋白质相互作用并对其进行调节，包括囊性纤维化跨膜电导调节剂和 G 蛋白偶联受体，例如 β2 肾上腺素能受体和甲状旁腺激素 1 受体。该蛋白质还与充当整合膜和细胞骨架蛋白之间连接体的蛋白质相互作用。该蛋白质定位于富含肌动蛋白的结构，包括膜褶皱、微绒毛和丝状伪足。该基因的突变导致 2 型低磷酸盐性肾结石/骨质疏松症，并且该基因的杂合性缺失与乳腺癌有关。[RefSeq 提供，2009 年 9 月]

This gene encodes a sodium/hydrogen exchanger regulatory cofactor. The protein interacts with and regulates various proteins including the cystic fibrosis transmembrane conductance regulator and G-protein coupled receptors such as the beta2-adrenergic receptor and the parathyroid hormone 1 receptor. The protein also interacts with proteins that function as linkers between integral membrane and cytoskeletal proteins. The protein localizes to actin-rich structures including membrane ruffles, microvilli, and filopodia. Mutations in this gene result in hypophosphatemic nephrolithiasis/osteoporosis type 2, and loss of heterozygosity of this gene is implicated in breast Cancer.[provided by RefSeq, Sep 2009]