MPC1L

Chr X

mitochondrial pyruvate carrier 1 like

Also known as: SLC54A3

NCBI Gene: 347411 ENSG00000238205 UniProt: P0DKB6 OMIM: 301103

The protein mediates pyruvate uptake into mitochondria across the inner mitochondrial membrane. Mutations cause autosomal recessive developmental and epileptic encephalopathy with microcephaly. This condition typically presents in early infancy with seizures, developmental delay, and progressive microcephaly affecting the neurological system.

OMIM ResearchSummary from RefSeq, UniProt

Predicted to enable pyruvate transmembrane transporter activity. Involved in pyruvate import into mitochondria. Located in mitochondrial inner membrane. [provided by Alliance of Genome Resources, Jun 2026]

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

—

LOEUF

Multiple*

Mechanism· predicted