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slc9a3r1

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Official Full Name
solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3 regulator 1
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
SLC9A3R1; solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3 regulator 1; EBP50; NHERF; NHERF1; NHERF-1; NPHLOP2; Na(+)/H(+) exchange regulatory cofactor NHE-RF1; Na+/H+ exchange regulatory co-factor; regulatory cofactor of Na(+)/H(+) exchanger; ezrin-radixin-moesin binding phosphoprotein-50; ezrin-radixin-moesin-binding phosphoprotein 50; solute carrier family 9 isoform A3 regulatory factor 1; solute carrier family 9 (sodium/hydrogen exchanger), isoform 3 regulatory factor 1; sodium-hydrogen exchanger regulatory fac; cb895; slc9a3r2; zgc:55541; zgc:77629; wu:fd20a02; solute carrier family 9 (sodium/hydrogen e