MPC2
Description
The MPC2 (mitochondrial pyruvate carrier 2) is a protein-coding gene located on chromosome 1.
MPC2, also known as Brain protein 44 (BRP44), is a protein encoded by the MPC2 gene in humans. It's part of the Mitochondrial Pyruvate Carrier (MPC) protein family and plays a crucial role in transporting pyruvate across the inner membrane of mitochondria. This transport prepares pyruvate for the pyruvate dehydrogenase reaction. Mutations in the MPC2 gene cause an autosomal recessive disorder with symptoms similar to Mitochondrial pyruvate carrier deficiency (MPC1 gene). These symptoms include early neurological problems, normal lactate/pyruvate ratio (though both are elevated), lactic acidosis, hypotonia, cardiomegaly, and facial dysmorphia.
MPC2 facilitates the uptake of pyruvate into mitochondria.
MPC2 is also known as BRP44, SLC54A2.
Associated Diseases
- mitochondrial pyruvate carrier deficiency
- schizophrenia
- hyperinsulinism due to INSR deficiency
- exercise-induced hyperinsulinism
- hyperinsulinism due to glucokinase deficiency
- autosomal recessive hyperinsulinism due to Kir6.2 deficiency
- islet cell adenomatosis
- hyperinsulinemic hypoglycemia, familial, 2
- hyperinsulinemic hypoglycemia, familial, 1
- cancer
- Mobius syndrome
- neuroendocrine carcinoma
