Mitochondrial folate transporter
| 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 |
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.
History[edit]
The mitochondrial folate transporter was first described in 2000.[1]
Role in pathology[edit]
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]
References[edit]
- ^ Titus SA, Moran RG (November 2000). "Retrovirally mediated complementation of the glyB phenotype. Cloning of a human gene encoding the carrier for entry of folates into mitochondria". The Journal of Biological Chemistry. 275 (47): 36811–7. doi:10.1074/jbc.M005163200. PMID 10978331.
- ^ Schiff M, Veauville-Merllié A, Su CH, Tzagoloff A, Rak M, Ogier de Baulny H, Boutron A, Smedts-Walters H, Romero NB, Rigal O, Rustin P, Vianey-Saban C, Acquaviva-Bourdain C (February 2016). "SLC25A32 Mutations and Riboflavin-Responsive Exercise Intolerance". The New England Journal of Medicine. 374 (8): 795–7. doi:10.1056/NEJMc1513610. PMC 4867164. PMID 26933868.
- ^ Hellebrekers DM, Sallevelt SC, Theunissen TE, Hendrickx AT, Gottschalk RW, Hoeijmakers JG, Habets DD, Bierau J, Schoonderwoerd KG, Smeets HJ (June 2017). "Novel SLC25A32 mutation in a patient with a severe neuromuscular phenotype". European Journal of Human Genetics. 25 (7): 886–888. doi:10.1038/ejhg.2017.62. PMC 5520074. PMID 28443623.
- ^ Al Shamsi B, Al Murshedi F, Al Habsi A, Al-Thihli K (November 2021). "Hypoketotic hypoglycemia without neuromuscular complications in patients with SLC25A32 deficiency". European Journal of Human Genetics. 30 (8): 976–979. doi:10.1038/s41431-021-00995-7. PMC 9349259. PMID 34764427.
- ^ Steele JW, Kim SE, Finnell RH (June 2020). "One-carbon metabolism and folate transporter genes: Do they factor prominently in the genetic etiology of neural tube defects?". Biochimie. 173: 27–32. doi:10.1016/j.biochi.2020.02.005. PMC 7253344. PMID 32061804.