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 co ...
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. T ...
. 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 (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