- Source: Mitochondrial pyruvate carrier 2
Mitochondrial pyruvate carrier 2 (MPC2) also known as brain protein 44 (BRP44) is a protein that in humans is encoded by the MPC2 gene. It is a member of the Mitochondrial Pyruvate Carrier (MPC) protein family. This protein is involved in transport of pyruvate across the inner membrane of mitochondria in preparation for the pyruvate dehydrogenase reaction.
Interactive pathway map
Click on genes, proteins and metabolites below to link to respective articles.
Clinical significance
Mutations in the MPC2 gene cause an autosomal recessive disease comparable to the symptoms of Mitochondrial pyruvate carrier deficiency (MPC1 gene). The symptoms associated with mutations in the MPC2 gene include early-onset neurological problems, normal lactate/pyruvate ratio (however both lactate and pyruvate are in higher than normal concentrations), lactic acidosis, hypotonia, cardiomegaly, and facial dysmorphia.
See also
Mitochondrial pyruvate carrier 1 (MPC1)
Inborn errors of carbohydrate metabolism
References
Further reading
Kata Kunci Pencarian:
- Mitochondrial pyruvate carrier 2
- Mitochondrial pyruvate carrier 1
- Mitochondrial pyruvate carrier
- Pyruvate dehydrogenase complex
- Pyruvate decarboxylation
- Pyruvate carboxylase
- Thiamine pyrophosphate
- Chromosome 1
- Cellular respiration
- Citrate–malate shuttle
