SLC25A46

Description

SLC25A46, also known as the mitochondrial pyruvate carrier 2 (MPC2), is a crucial protein involved in the import of pyruvate into mitochondria. This process is essential for energy production through oxidative phosphorylation. SLC25A46 forms a heterodimer with MPC1, another protein, to create a functional transporter. The protein is highly expressed in tissues with high energy demands, such as the brain, heart, and skeletal muscle. Mutations in SLC25A46 can lead to various metabolic disorders, highlighting its importance in cellular metabolism.

Associated Diseases

• Leigh Syndrome
• Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-like Episodes (MELAS)
• Mitochondrial myopathy

Did you know?

SLC25A46 is a target for the development of novel drugs for the treatment of metabolic diseases.