The mitochondrial folate transporter (MTF) is a transport protein that facilitates the transfer of tetrahydrofolate across the inner mitochondrial membrane. It is encoded by the SLC25A32 gene and belongs to the mitochondrial carrier superfamily.
| Mitochondrial folate transporter | |
|---|---|
| Identifiers | |
| Symbol | MFT |
| Alt. symbols | SLC25A32 |
| Alt. names | Solute carrier family 25, member 32 |
| OMIM | 138480 |
| Other data | |
| Locus | Chr. 8 q22.3 |
History
The mitochondrial folate transporter was first described in 2000.[1]
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.[2] Several additional cases of SLC25A32 deficiency have been described since.[3][4] 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 defects in mice, and they have been associated with several human cases, based on a re-sequencing of DNA of patients with neural tube defects.[5]