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NHERF1 - NHERF family PDZ scaffold protein 1
- Synonym(s) : EBP50, NHERF
- Previous symbols and names : 'solute carrier family 9 (sodium/hydrogen exchanger), member 3 regulator 1', Solute carrier family 9 (sodium/hydrogen exchanger), member 3 regulator 1, solute carrier family 9 (sodium/hydrogen exchanger), isoform 3 regulator 1, solute carrier family 9 (sodium/hydrogen exchanger), isoform 3 regulatory factor 1, solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3 regulator 1
- Type : gene with protein product
- Chromosomal location : 17q25.1
- OMIM: 604990
- HGNC: 11075
- UniProtKB: O14745
- Genatlas: SLC9A3R1
- GenCC: SLC9A3R1
- Ensembl: ENSG00000109062
- IUPHAR-DB: -
- Reactome: O14745
- LOVD: NHERF1
Diseases list
- Disease-causing germline mutation(s) in Dominant hypophosphatemia with nephrolithiasis or osteoporosis
ORPHA:244305 
: AssessedAdditional information
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