Mitochondrial pyruvate carrier 2 (MPC2) also known as brain protein 44 (BRP44) is a
protein
Proteins are large biomolecules and macromolecules that comprise one or more long chains of amino acid residue (biochemistry), residues. Proteins perform a vast array of functions within organisms, including Enzyme catalysis, catalysing metab ...
that in humans is encoded by the ''MPC2''
gene
In biology, the word gene has two meanings. The Mendelian gene is a basic unit of heredity. The molecular gene is a sequence of nucleotides in DNA that is transcribed to produce a functional RNA. There are two types of molecular genes: protei ...
.
It is a member of the Mitochondrial Pyruvate Carrier (MPC)
protein family
A protein family is a group of evolutionarily related proteins. In many cases, a protein family has a corresponding gene family, in which each gene encodes a corresponding protein with a 1:1 relationship. The term "protein family" should not be ...
. This protein is involved in transport of
pyruvate
Pyruvic acid (CH3COCOOH) is the simplest of the alpha-keto acids, with a carboxylic acid and a ketone functional group. Pyruvate, the conjugate base, CH3COCOO−, is an intermediate in several metabolic pathways throughout the cell.
Pyruvic ...
across the inner membrane of
mitochondria
A mitochondrion () is an organelle found in the cells of most eukaryotes, such as animals, plants and fungi. Mitochondria have a double membrane structure and use aerobic respiration to generate adenosine triphosphate (ATP), which is us ...
in preparation for the
pyruvate dehydrogenase reaction.
Interactive pathway map
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
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Mitochondrial pyruvate carrier 1 (MPC1)
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Inborn errors of carbohydrate metabolism
Inborn errors of carbohydrate metabolism are inborn errors of metabolism that affect the catabolism and anabolism of carbohydrates.
An example is lactose intolerance.
Carbohydrates account for a major portion of the human diet. These carbohydr ...
References
Further reading
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{{Solute carrier disorders
Inborn errors of carbohydrate metabolism
Autosomal recessive disorders
Transport proteins
Solute carrier family