Full name: NHERF family PDZ scaffold protein 1

Gene type: protein coding

RefSeq status: REVIEWED

Also known as: EBP50; NHE-RF; NHERF; NHERF-1; NPHLOP2; SLC9A3R1

Summary: 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]

Expression: Broad expression in small intestine (RPKM 101.8), duodenum (RPKM 91.7) and 23 other tissues

Gene size: 20726bp

Exon count: 6