SLC25A52

Chr 18

solute carrier family 25 member 52

Also known as: MCART2

NCBI Gene: 147407 ENSG00000141437 UniProt: Q3SY17 OMIM: 616153

This protein is a mitochondrial membrane carrier that mediates the import of NAD(+) into mitochondria, though it is not essential for this process compared to the related SLC25A51 protein. The gene appears to be loss-of-function tolerant based on population genetics data (low constraint scores), and no definitive disease associations have been established in the provided information. The gene may represent an evolving pseudogene that retains transcriptional activity and a complete coding sequence.

OMIM ResearchSummary from RefSeq, UniProt

This gene is similar to the mitochondrial carrier triple repeat 1 gene on chromosome 9. The gene is intronless and may be an evolving pseudogene; however, it is transcribed and it contains a full-length coding region so it is currently classified as a protein-coding locus. [provided by RefSeq, Jul 2008]

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

1.76

LOEUF

Multiple*

Mechanism· predicted