Mitochondrial folate transporter Symbol MFT Alt. symbols SLC25A32 Alt. names Solute carrier family 25, member 32 OMIM 138480 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 .
The mitochondrial folate transporter was first described in 2000.[ 1]
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]
^ 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 .
^
^ 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 .
By group
SLC1–10
(1): (2): (3): (4): (5): (6): (7): (8): (9): (10):
SLC11–20
(11):
proton coupled metal ion transporter
(12): (13):
human Na+ -sulfate/carboxylate cotransporter
(14): (15):
proton oligopeptide cotransporter
(16):
monocarboxylate transporter
(17): (18): (19): (20):
SLC21–30
(21): (22): (23):
Na+-dependent ascorbic acid transporter
(24): (25): (26):
multifunctional anion exchanger
(27): (28):
Na+ -coupled nucleoside transport (SLC28A1
(29):
facilitative nucleoside transporter
(30):
SLC31–40
(31): (32): (33): (34):
type II Na+ -phosphate cotransporter
(35):
nucleoside-sugar transporter
SLC35E1
SLC35E2
SLC35E3
SLC35E4
(36): (37):
sugar-phosphate/phosphate exchanger
(38):
System A & N, sodium-coupled neutral amino-acid transporter
(39): (40):
basolateral iron transporter
SLC41–48
(41): (42): (43):
Na+ -independent, system-L like amino-acid transporter
(44): (45):
Putative sugar transporter
(46): (47): (48):