SLC13A3

SLC13A3 is a gene that encodes a protein known as the Sodium-dependent dicarboxylate transporter 3. This protein is a member of the solute carrier family 13 (sodium-dependent dicarboxylate transporters), member 3. This family is part of a larger group of membrane transport proteins known as solute carriers (SLCs).

Function

The SLC13A3 gene is responsible for the production of a protein that transports certain types of molecules across cell membranes. Specifically, it transports dicarboxylates, which are molecules that contain two carboxylate (COO-) groups. This transport is dependent on the presence of sodium ions. The protein is expressed in the kidney and the brain, where it plays a crucial role in the reabsorption of dicarboxylates and electrolyte homeostasis.

Clinical significance

Mutations in the SLC13A3 gene have been associated with various medical conditions. For instance, a study found that a mutation in this gene was associated with idiopathic infantile hypercalcemia, a rare disorder characterized by abnormally high levels of calcium in the blood. Other studies have suggested a link between SLC13A3 and certain types of cancer, including renal cell carcinoma and glioblastoma.

Research

Research into the SLC13A3 gene and its associated protein is ongoing. Scientists are particularly interested in understanding how mutations in this gene contribute to disease development and progression. This research could potentially lead to new therapeutic strategies for treating diseases associated with SLC13A3 mutations.

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See also

• Solute carrier family
• Membrane transport protein
• Hypercalcemia
• Renal cell carcinoma
• Glioblastoma

References

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External links

• SLC13A3 at the National Center for Biotechnology Information (NCBI)
• SLC13A3 at the Genetics Home Reference (GHR)