MPC1

mitochondrial pyruvate carrier 1

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

The protein encoded by this gene is part of an MPC1/MPC2 heterodimer that is responsible for transporting pyruvate into mitochondria. The encoded protein is found in the inner mitochondrial membrane. Defects in this gene are a cause of mitochondrial pyruvate carrier deficiency. Several transcript variants, some protein coding and one non-protein coding, have been found for this gene. [provided by RefSeq, Aug 2012]

From UniProt:

Mediates the uptake of pyruvate into mitochondria.

From NCBI Gene:

  • Mitochondrial pyruvate carrier deficiency

From UniProt:

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. [MIM:614741]

Cytogenetic Location: 6q27, which is the long (q) arm of chromosome 6 at position 27

Molecular Location: base pairs 166,364,919 to 166,383,013 on chromosome 6 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 6q27, which is the long (q) arm of chromosome 6 at position 27
  • BRP44L
  • CGI-129
  • dJ68L15.3
  • MPYCD