Gene Symbol | SLC9A3R1 |
Entrez Gene ID | 9368 |
Full Name | SLC9A3 regulator 1 |
Synonyms | EBP50,NHERF,NHERF-1,NHERF1,NPHLOP2 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
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]. |
Disorder MIM: | |
Disorder Html: | Nephrolithiasis/osteoporosis, hypophosphatemic, 2, 612287 (3) |