SLC13A2

SLC13A2 is a gene that encodes a protein known as the sodium-dependent dicarboxylate transporter 2. This protein is a member of the solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 2. The SLC13A2 gene is located on the long (q) arm of chromosome 17 at position 11.2.

Function

The protein encoded by the SLC13A2 gene is an integral membrane protein that is involved in the transport of dicarboxylates across the cell membrane. The protein is part of the solute carrier family, which includes a range of proteins that transport various substances across the cell membrane. The SLC13A2 protein specifically transports dicarboxylates, which are organic compounds that contain two carboxylate (COO-) groups.

Clinical significance

Mutations in the SLC13A2 gene have been associated with various medical conditions. For example, a rare genetic disorder known as idiopathic infantile hypercalcemia (IIH) has been linked to mutations in this gene. IIH is characterized by abnormally high levels of calcium in the blood, which can lead to various symptoms such as poor appetite, vomiting, constipation, and developmental delay.

Research

Research into the SLC13A2 gene and its associated protein is ongoing, with scientists seeking to better understand its function and the role it plays in disease. This research could potentially lead to new treatments for conditions associated with mutations in this gene.