MGP Database

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MGP005226

UniProt Annotations

Entry Information
Gene Namemitochondrial pyruvate carrier 1
Protein EntryMPC1_HUMAN
UniProt IDQ9Y5U8
SpeciesHuman
Comments
Comment typeDescription
DiseaseMitochondrial pyruvate carrier deficiency (MPYCD) [MIM:614741]: 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. {ECO:0000269|PubMed:22628558}. Note=The disease is caused by mutations affecting the gene represented in this entry.
FunctionMediates the uptake of pyruvate into mitochondria. {ECO:0000269|PubMed:22628558}.
Sequence CautionSequence=AAG23822.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};
SimilarityBelongs to the mitochondrial pyruvate carrier (MPC) (TC 2.A.105) family. {ECO:0000305}.
Subcellular LocationMitochondrion inner membrane {ECO:0000269|PubMed:22628558}; Multi-pass membrane protein {ECO:0000269|PubMed:22628558}.
SubunitThe functional 150 kDa pyruvate import complex is a heteromer of MPC1 and MPC2. {ECO:0000250|UniProtKB:P63030}.
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