Mitochondrial folate transporter
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
The mitochondrial folate transporter was first described in 2000.[1]
Role in pathology
Mutations of the SLC25A32 gene cause the condition putatively called "riboflavine-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).
References
- ^ 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.
{{cite journal}}: CS1 maint: unflagged free DOI (link) - ^ 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 D, Sallevelt S, Theunissen T, Hendrickx A, Gottschalk RW, Hoeijmakers J, Habets DD, Bierau J, Schoonderwoerd KG, Smeets H (June 2017). "Novel SLC25A32 mutation in a patient with a severe neuromuscular phenotype". European Journal of Human Genetics : EJHG. 25 (7): 886–888. doi:10.1038/ejhg.2017.62. PMC 5520074. PMID 28443623.
{{cite journal}}: Vancouver style error: initials in name 1 (help) - ^ 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 : EJHG. doi:10.1038/s41431-021-00995-7. PMID 34764427.