Entrez gene ID | | 9368 |
Official gene symbol | | SLC9A3R1 |
Full name | | solute carrier family 9 (sodium/hydrogen exchanger), member 3 regulator 1 |
Aliases | | ,EBP50,NHERF,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. |
Location | | Chromosome: 17 Locus: 17q25.1 |
Gene position | | 72744763 - 72765499 Map Viewer |
Gene orientation | | plus |
Gene size | | 20737 bp |
Gene sequence |
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OMIM ID | | 604990 |