Synonyms: EBP 50,EBP50,Ezrin radixin moesin binding phosphoprotein 50,Ezrin-radixin-moesin-binding phosphoprotein 50,Na(+)/H(+) exchange regulatory cofactor NHE RF,Na(+)/H(+) exchange regulatory cofactor NHE-RF1,Na+/H+ exchange regulatory co factor,NHERF 1,NHERF,NHERF-1,NHERF1,NHRF1,NPHLOP2,Regulatory cofactor of Na(+)/H(+) exchanger,Slc9a3r1,Sodium hydrogen exchanger regulatory factor 1,Sodium-hydrogen exchanger regulatory factor 1,Sodium/hydrogen exchanger regulatory factor 1,Solute carrier family 9 (sodium/hydrogen exchanger) member 3 regulator 1,Solute carrier family 9 (sodium/hydrogen exchanger), isoform 3 regulatory factor 1,Solute carrier family 9 isoform 3 regulatory factor 1,Solute carrier family 9 isoform A3 regulatory factor 1,Solute carrier family 9 member 3 regulator 1
Background: 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.