MPC2

Chr 1

mitochondrial pyruvate carrier 2

Also known as: BRP44, SLC54A2

NCBI Gene: 25874 ENSG00000143158 UniProt: O95563

MPC2 encodes a protein that mediates the uptake of pyruvate into mitochondria to maintain the balance between glycolysis and oxidative phosphorylation. Mutations cause autosomal recessive mitochondrial complex I deficiency, nuclear type 9, which presents with early-onset neurological symptoms including developmental delay, seizures, and movement disorders. The gene shows moderate constraint against loss-of-function variants, consistent with its essential role in cellular metabolism.

ResearchSummary from RefSeq, UniProt

Enables identical protein binding activity. Involved in mitochondrial pyruvate transmembrane transport. Located in mitochondrial inner membrane. [provided by Alliance of Genome Resources, Apr 2025]

ResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.63

LOEUF

Mechanism· predicted

Some data sources returned errors (1)

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