SLC17A9

SLC17A9 is a gene that encodes a protein in the human body. This protein is a member of the solute carrier family 17, which is responsible for the transport of various substances across the cell membrane. The SLC17A9 protein is specifically involved in the transport of nucleotides, the building blocks of DNA and RNA.

Function

The SLC17A9 protein is a vesicular nucleotide transporter. It is responsible for the transport of nucleotides into vesicles, small sacs within cells that store and transport various substances. This process is crucial for the normal functioning of cells, as nucleotides are essential for the synthesis of DNA and RNA, the molecules that carry genetic information in the body.

Clinical significance

Mutations in the SLC17A9 gene can lead to various health conditions. For example, a mutation in this gene has been associated with a rare genetic disorder called hypouricemia, which is characterized by abnormally low levels of uric acid in the blood. Uric acid is a waste product that is normally excreted in urine, but in people with hypouricemia, it accumulates in the body, leading to various health problems.

Research

Research on the SLC17A9 gene and its protein product is ongoing. Scientists are particularly interested in understanding how mutations in this gene contribute to disease, as this could lead to the development of new treatments for conditions like hypouricemia.

See also

• Solute carrier family
• Nucleotide
• DNA
• RNA
• Hypouricemia