BRP44L Antibody – Rabbit

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]

BRP44L: Mediates the uptake of pyruvate into mitochondria. Defects in MPC1 are the cause of 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. Belongs to the mitochondrial pyruvate carrier (MPC) family.

Protein type: Membrane protein, multi-pass; Mitochondrial

Chromosomal Location of Human Ortholog: 6q27

Cellular Component: mitochondrion; mitochondrial inner membrane; integral to membrane

Molecular Function: pyruvate transmembrane transporter activity

Biological Process: cellular metabolic process; mitochondrial pyruvate transport; pyruvate metabolic process

Disease: Mitochondrial Pyruvate Carrier Deficiency