Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Solute carrier family 24, member 3 (sodium/potassium/calcium exchanger)

SLC24A3 gene encodes a sodium/calcium exchangers that resides in the plasma membrane. The transporter is believed to transport one intracellular calcium and one potassium ions in exchange for four extracellular sodium ions. Physiological studies suggest that mutations in this gena may cause Bartter-like symptoms.

Genetests:

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

Related Diseases:

References:

1.

Kraev A et al. (2001) Molecular cloning of a third member of the potassium-dependent sodium-calcium exchanger gene family, NCKX3.

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2.

Yang H et al. (2011) Distinct expression of the calcium exchangers, NCKX3 and NCX1, and their regulation by steroid in the human endometrium during the menstrual cycle.

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3.

Citterio L et al. (2011) Genes involved in vasoconstriction and vasodilation system affect salt-sensitive hypertension.

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4.

NCBI article

NCBI 57419 [^]
5.

OMIM.ORG article

Omim 609839 [^]
Update: April 29, 2019