Gene: SLC9A3R1

Alternate names for this Gene: EBP50|NHERF|NHERF-1|NHERF1|NPHLOP2

Gene 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.

Gene is located in Chromosome: 17

Location in Chromosome : 17q25.1

Description of this Gene: SLC9A3 regulator 1

Type of Gene: protein-coding