NHERF1 is a sodium/hydrogen exchanger regulatory cofactor. It 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. NHERF1 also interacts with proteins that function as linkers between integral membrane and cytoskeletal proteins. It localizes to actin-rich structures including membrane ruffles, microvilli, and filopodia. Mutations in NHERF1 result in hypophosphatemic nephrolithiasis/osteoporosis type 2, and loss of heterozygosity of this protein is implicated in breast cancer.
