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Details of SLC9A3R1 gene in Homo sapiens
IDs |
|---|
| Link outs |
Gene Name |
Alias |
Uniprot ID |
SwissProt ID |
NCBI gene ID |
ENSEMBL ID |
Description |
Source |
|
| SLC9A3R1 | NHERF,NHERF1 | O14745 | NHRF1_HUMAN | 9368
| ENSG00000109062
| Na(+)/H(+) exchange regulatory cofactor NHE-RF1 | SPROT |
Disease |
|---|
| Disease |
OMIM id |
| Nephrolithiasis/osteoporosis, hypophosphatemic, 2 (NPHLOP2) [MIM:612287]: A disease characterized by decreased renal phosphate absorption, renal phosphate wasting, hypophosphatemia, hyperphosphaturia, hypercalciuria, nephrolithiasis and osteoporosis. Note=The disease is caused by mutations affecting the gene represented in this entry. |
612287 |
