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Missense mutation T485S alters NBCe1-A electrogenicity causing proximal renal tubular acidosis
Mutations in SLC4A4, the gene encoding the electrogenic Na(+)-HCO(3)(−) cotransporter NBCe1, cause severe proximal renal tubular acidosis (pRTA), growth retardation, decreased IQ, and eye and teeth abnormalities. Among the known NBCe1 mutations, the disease-causing mechanism of the T485S (NBCe1-A nu...
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| Hauptverfasser: | , , , , , , , |
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| Format: | Artigo |
| Sprache: | Inglês |
| Veröffentlicht: |
American Physiological Society
2013
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| Schlagworte: | |
| Online Zugang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3891219/ https://ncbi.nlm.nih.gov/pubmed/23636456 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1152/ajpcell.00044.2013 |
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