SLC25A26

Chr 3

solute carrier family 25 member 26

The protein functions as a mitochondrial antiporter that exchanges S-adenosyl-L-methionine (the primary cellular methyl donor) for S-adenosyl-L-homocysteine across the inner mitochondrial membrane. Biallelic mutations cause combined oxidative phosphorylation deficiency 28, inherited in an autosomal recessive pattern. This gene shows relatively low constraint to loss-of-function variation (LOEUF 1.236), indicating some tolerance to heterozygous inactivation.

ResearchSummary from RefSeq, OMIM, UniProt

Mitochondrial S-adenosyl-L-methionine/S-adenosyl-L-homocysteine antiporter. Mediates the exchange of cytosolic S-adenosyl-L-methionine, the predominant methyl-group donor for macromolecule methylation processes, for mitochondrial S-adenosylhomocysteine(SAH), a by-product of methylation reactions

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtCombined oxidative phosphorylation deficiency 28

Clinical highlights

Gene-disease validity (ClinGen)

mitochondrial disease · ARDefinitivesufficient evidence for diagnostic panels

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype), though the gene is not strongly LoF-constrained in the population — weigh truncating variants against that tolerance.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

—

P/LP submissions

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P/LP missense

1.24

LOEUF

LOF

Mechanism· G2P

Some data sources returned errors (2)

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