Cationic amino acid transporter 2

Cationic amino acid transporter 2 (CAT2), also known as SLC7A2, is a protein that in humans is encoded by the SLC7A2 gene. It is a member of the solute carrier family of proteins, which are responsible for the transport of a variety of substances across the cell membrane.

Function

The CAT2 protein is a cationic amino acid transporter, which means it is responsible for the transport of positively charged amino acids across the cell membrane. These amino acids include arginine, lysine, and ornithine, which are essential for various biological processes such as protein synthesis and cell growth.

Structure

The CAT2 protein is a transmembrane protein, meaning it spans the entire width of the cell membrane. It has 14 transmembrane domains, with both the N-terminus and the C-terminus located on the inside of the cell. The protein also contains several glycosylation sites, which are important for protein stability and function.

Clinical significance

Mutations in the SLC7A2 gene can lead to a variety of health conditions. For example, a deficiency in CAT2 can lead to hyperargininemia, a rare metabolic disorder characterized by an excess of arginine in the blood. This can cause symptoms such as intellectual disability, spasticity, and seizures.

See also

• Solute carrier family
• Cationic amino acid transporter 1
• Cationic amino acid transporter 3