Sodium bicarbonate cotransporter 1
The sodium bicarbonate cotransporter encoded by the gene is located in the proximal tubules of the kidney. Dysfunction leads to proximal renal tubular acidosis.
Genetests:
Related Diseases:
References:
1. |
Igarashi T et al. () Molecular basis of proximal renal tubular acidosis.
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2. |
Dinour D et al. (2004) A novel missense mutation in the sodium bicarbonate cotransporter (NBCe1/SLC4A4) causes proximal tubular acidosis and glaucoma through ion transport defects.
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3. |
Horita S et al. (2005) Functional analysis of NBC1 mutants associated with proximal renal tubular acidosis and ocular abnormalities.
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4. |
Demirci FY et al. (2006) Proximal renal tubular acidosis and ocular pathology: a novel missense mutation in the gene (SLC4A4) for sodium bicarbonate cotransporter protein (NBCe1).
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5. |
NCBI article
NCBI 8671
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6. |
OMIM.ORG article
Omim 603345
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7. |
Orphanet article
Orphanet ID 119685
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8. |
Wikipedia article
Wikipedia EN (SLC4A4)
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Update: Aug. 14, 2020