SLC25A31

Chr 4

solute carrier family 25 member 31

Also known as: AAC4, ANT 4, ANT4, SFEC35kDa

NCBI Gene: 83447 ENSG00000151475 UniProt: Q9H0C2 OMIM: 610796

The SLC25A31 protein is an ADP/ATP antiporter that exchanges cytosolic ADP for mitochondrial ATP and is specifically required during spermatogenesis for normal meiotic progression. Mutations cause autosomal recessive male infertility due to early meiotic arrest in spermatocytes. The gene shows very low constraint against loss-of-function variants (pLI near 0), consistent with its primary role in male reproductive function rather than essential cellular processes.

OMIM ResearchSummary from RefSeq, UniProt

The protein encoded by this gene is a member of the ADP/ATP carrier family of proteins that exchange cytosolic ADP for matrix ATP in the mitochondria. Cells over-expressing this gene have been shown to display an anti-apoptotic phenotype. This protein is also thought to play a role in spermatogenesis, where it is believed to associate with a part of the flagellar cytoskeleton and with glycolytic enzymes. Male mice with mutations in the mouse ortholog of this gene are sterile and spermatocytes display an early meiotic arrest phenotype. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jan 2016]

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

1.39

LOEUF

Multiple*

Mechanism· predicted