MPC1
Function
Mediates the uptake of pyruvate into mitochondria.
Involvement in disease
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.
Sequence Similarities
Belongs to the mitochondrial pyruvate carrier (MPC) (TC 2.A.105) family.
Cellular localization
- Mitochondrion inner membrane
- Multi-pass membrane protein
Alternative names
BRP44L, CGI-129, HSPC040, PNAS-115, MPC1, Mitochondrial pyruvate carrier 1, Brain protein 44-like protein