Description
The SLC9A3R1 gene encodes a sodium/hydrogen exchanger regulatory cofactor. Na(+)/H(+) exchange regulatory cofactor NHE-RF1 (also called SLC9A3 regulator 1 and Ezrin-radixin-moesin-binding phosphoprotein 50) 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. [RefSeq]