Mitochondrial pyruvate carrier 2

Mitochondrial pyruvate carrier 2 also known as brain protein 44 is a protein that in humans is encoded by the MPC2 gene. It is a member of the Mitochondrial Pyruvate Carrier protein family. This protein is involved in transport of pyruvate across the inner membrane of mitochondria in preparation for the pyruvate dehydrogenase reaction.

Clinical significance

Mutations in the MPC2 gene cause an autosomal recessive disease comparable to the symptoms of Mitochondrial pyruvate [carrier deficiency]. The symptoms associated with mutations in the MPC2 gene include early-onset neurological problems, normal lactate/pyruvate ratio, lactic acidosis, hypotonia, cardiomegaly, and facial dysmorphia.