SLC25A51

Chr 9

solute carrier family 25 member 51

Also known as: CG7943, MCART1

NCBI Gene: 92014 ENSG00000122696 UniProt: Q9H1U9 OMIM: 619153

The protein functions as a mitochondrial membrane carrier that mediates the essential import of NAD(+) into mitochondria, which is required for glycolysis and mitochondrial respiration. Mutations cause mitochondrial complex I deficiency with severe early-onset encephalomyopathy, typically presenting in infancy with neurological and metabolic dysfunction. The condition follows an autosomal recessive inheritance pattern.

OMIM ResearchSummary from RefSeq, UniProt

Enables NAD transmembrane transporter activity. Involved in mitochondrial NAD transmembrane transport. Located in mitochondrion. Is active in mitochondrial inner membrane. [provided by Alliance of Genome Resources, Jul 2025]

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

1.20

LOEUF

Multiple*

Mechanism· predicted