Mitochondrial folate transporter

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

SLC25A32
Identifiers
Aliases	SLC25A32, MFT, MFTC, RREI, solute carrier family 25 member 32, GLYB, Mitochondrial folate transporter
External IDs	OMIM: 610815; MGI: 1917156; GeneCards: SLC25A32
RNA expression pattern
	Top expressed in
	Achilles tendon; ; lymph node; ; stromal cell of endometrium; ; islet of Langerhans; ; smooth muscle tissue; ; subcutaneous adipose tissue; ; popliteal artery; ; appendix; ; left uterine tube; ; thoracic aorta;
	n/a
	More reference expression data
	n/a
Gene ontology
Molecular function	folic acid transmembrane transporter activity; FAD transmembrane transporter activity; transmembrane transporter activity;
Cellular component	membrane; mitochondrion; mitochondrial membranes; mitochondrial inner membrane; integral component of membrane;
Biological process	glycine metabolic process; folic acid metabolic process; folic acid transport; folate import into mitochondrion; mitochondrial transport; FAD transmembrane transport; transmembrane transport;
	Sources:Amigo / QuickGO
Orthologs
Databases	NCBI: entry
	81034
	69906
	n/a
	ENSMUSG00000022299
	Q9H2D1
	Q8BMG8
	NM_030780
	NM_172402
	NP_110407
	NP_765990
	Wikidata
View/Edit Human	View/Edit Mouse

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.^[3]

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.^[4] Several additional cases of SLC25A32 deficiency have been described since.^[5]^[6] 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.^[7]

References

↑ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
↑ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
↑ 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.

[1] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[2] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[pmid10978331-3] 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.

[pmid26933868-4] 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.

[pmid28443623-5] 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.

[pmid34764427-6] 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.

[pmid32061804-7] 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.

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