SLC25A26

This gene is a member of the mitochondrial carrier family which includes nuclear-encoded transporters localized on the inner mitochondrial membranes. Members of the family transport important small molecules across the mitochondrial inner membrane. This protein is involved in the transport of S-adenosylmethionine (SAM) into the mitochondria. Mutations in this gene are associated with combined oxidative phosphorylation deficiency 28. Alternative splicing results in multiple transcript variants encoding different isoforms.

Full Name

Solute Carrier Family 25 Member 26

Function

Mitochondrial solute carriers shuttle metabolites, nucleotides, and cofactors through the mitochondrial inner membrane. Specifically mediates the transport of S-adenosylmethionine (SAM) into the mitochondria.

Biological Process

Biological Process ion transportTAS:Reactome
Biological Process S-adenosyl-L-methionine transportManual Assertion Based On ExperimentIMP:UniProtKB

Cellular Location

Mitochondrion inner membrane

Involvement in disease

Combined oxidative phosphorylation deficiency 28 (COXPD28):
An autosomal recessive mitochondrial disorder characterized by decreased activities of respiratory chain enzymes, and variable clinical manifestations. Clinical features include episodic metabolic decompensation beginning in infancy, mild muscle weakness, cardiorespiratory insufficiency, developmental delay, or even death.