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SLC9A3R1


Official Full Name
NHERF family PDZ scaffold protein 1
Organism
Homo sapiens
Gene ID
9368
Background
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]
Synonyms
NHERF1; EBP50; NHERF; NHE-RF; NHERF-1; NPHLOP2; SLC9A3R1

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