Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
Moldiag Diseases Genes Support Contact

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:

Clinic Method Carrier testing
Turnaround 5 days
Specimen type genomic DNA
Clinic Method Massive parallel sequencing
Turnaround 25 days
Specimen type genomic DNA
Clinic Method Genomic sequencing of the entire coding region
Turnaround 25 days
Specimen type genomic DNA

Related Diseases:

Proximal renal tubular acidosis
SLC4A4

References:

1.

Igarashi T et al. () Molecular basis of proximal renal tubular acidosis.

external link
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.

external link
3.

Horita S et al. (2005) Functional analysis of NBC1 mutants associated with proximal renal tubular acidosis and ocular abnormalities.

external link
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).

external link
5.

NCBI article

NCBI 8671 external link
6.

OMIM.ORG article

Omim 603345 external link
7.

Orphanet article

Orphanet ID 119685 external link
8.

Wikipedia article

Wikipedia EN (SLC4A4) external link
Update: Aug. 14, 2020
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