Movatterモバイル変換

[0]ホーム
URL:

Jump to content
WikipediaThe Free Encyclopedia
Search

Mitochondrial folate transporter

From Wikipedia, the free encyclopedia
(Redirected fromSLC25A32)
Transport protein
Mitochondrial folate transporter
Identifiers
SymbolMFT
Alt. symbolsSLC25A32
Alt. namesSolute carrier family 25, member 32
OMIM138480
Other data
LocusChr. 8q22.3

Themitochondrial folate transporter (MTF) is atransport protein that facilitates the transfer oftetrahydrofolate across theinner mitochondrial membrane. It is encoded by the SLC25A32 gene and belongs to themitochondrial 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 asSLC25A32 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 ofmultiple acyl-CoA dehydrogenase deficiency (MADD).

According to a review published in 2020, mutations of the SLC25A32 gene have been shown to causeneural 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]
  1. ^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.
  2. ^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.
  3. ^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.
  4. ^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.
  5. ^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):
(12):
(13):
(14):
(15):
(16):
(17):
(18):
(19):
(20):
SLC21–30
(21):
(22):
(23):
(24):
(25):
(26):
(27):
(28):
(29):
(30):
SLC31–40
(31):
(32):
(33):
(34):
(35):
(36):
(37):
(38):
(39):
(40):
SLC41–48
(41):
(42):
(43):
(44):
(45):
(46):
(47):
(48):
SLCO1–4
Symporter,Cotransporter
Antiporter (exchanger)
Retrieved from "https://en.wikipedia.org/w/index.php?title=Mitochondrial_folate_transporter&oldid=1275363688"
Categories:
Hidden categories:
[8]ページ先頭
©2009-2025 Movatter.jp