The mitochondrial folate transporter (MTF) is a

transport protein A transport protein (variously referred to as a transmembrane pump, transporter, escort protein, acid transport protein, cation transport protein, or anion transport protein) is a protein that serves the function of moving other materials within ...

that facilitates the transfer of

tetrahydrofolate Tetrahydrofolic acid (THFA), or tetrahydrofolate, is a folic acid derivative. Metabolism Human synthesis Tetrahydrofolic acid is produced from dihydrofolic acid by dihydrofolate reductase. This reaction is inhibited by methotrexate. It is ...

across the

inner mitochondrial membrane The inner mitochondrial membrane (IMM) is the mitochondrial membrane which separates the mitochondrial matrix from the intermembrane space. Structure The structure of the inner mitochondrial membrane is extensively folded and compartmentalized. ...

. It is encoded by the SLC25A32 gene and belongs to the mitochondrial carrier superfamily.

History

The mitochondrial folate transporter was first described in 2000.

Role in pathology

Mutations of the SLC25A32 gene cause the condition putatively called " riboflavin-responsive exercise intolerance" (RREI), also known as SLC25A32 deficiency. The first case report linking this condition to SLC25A32 was published in 2016. Several additional cases of SLC25A32 deficiency have been described since. The phenotype of the patients is reminiscent of

multiple acyl-CoA dehydrogenase deficiency Glutaric acidemia type 2 is an autosomal recessive metabolic disorder that is characterised by defects in the ability of the body to use proteins and fats for energy. Incompletely processed proteins and fats can build up, leading to a dangerous ...

(MADD). According to a review published in 2020, mutations of the SLC25A32 gene have been shown to cause

neural tube defect Neural tube defects (NTDs) are a group of birth defects in which an opening in the spine or cranium remains from early in human development. In the third week of pregnancy called gastrulation, specialized cells on the dorsal side of the embryo ...

s in mice, and they have been associated with several human cases, based on a re-sequencing of DNA of patients with neural tube defects.

References

{{Solute carrier family Mitochondrial proteins