Mediates the uptake of pyruvate into mitochondria.
Mitochondrial pyruvate carrier deficiency
MPYCD
An autosomal recessive metabolic disorder characterized by severely delayed psychomotor development, mild dysmorphic features, hepatomegaly, marked metabolic acidosis, hyperlactacidemia with normal lactate/pyruvate, and encephalopathy. Some patients have epilepsy and peripheral neuropathy.
None
The disease is caused by variants affecting the gene represented in this entry.
Belongs to the mitochondrial pyruvate carrier (MPC) (TC 2.A.105) family.
BRP44L, CGI-129, HSPC040, PNAS-115, MPC1, Mitochondrial pyruvate carrier 1, Brain protein 44-like protein
Proteins
Metabolism
12347Da
We found 1 product in 1 category