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( T o p )
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F r o m W i k i p e d i a , t h e f r e e e n c y c l o p e d i a
( R e d i r e c t e d f r o m S L C 2 5 A 3 2 )
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] [3] [4] 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 ]
^ 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 .
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see also solute carrier disorders
R e t r i e v e d f r o m " https://en.wikipedia.org/w/index.php?title=Mitochondrial_folate_transporter&oldid=1170797075 " C a t e g o r i e s : ● G e n e s o n h u m a n c h r o m o s o m e 8 ● M i t o c h o n d r i a l p r o t e i n s H i d d e n c a t e g o r y : ● P r o t e i n p a g e s n e e d i n g a p i c t u r e
● T h i s p a g e w a s l a s t e d i t e d o n 1 7 A u g u s t 2 0 2 3 , a t 0 7 : 3 1 ( U T C ) . ● T e x t i s a v a i l a b l e u n d e r t h e C r e a t i v e C o m m o n s A t t r i b u t i o n - S h a r e A l i k e L i c e n s e 4 . 0 ;
a d d i t i o n a l t e r m s m a y a p p l y . B y u s i n g t h i s s i t e , y o u a g r e e t o t h e T e r m s o f U s e a n d P r i v a c y P o l i c y . W i k i p e d i a ® i s a r e g i s t e r e d t r a d e m a r k o f t h e W i k i m e d i a F o u n d a t i o n , I n c . , a n o n - p r o f i t o r g a n i z a t i o n . ● P r i v a c y p o l i c y ● A b o u t W i k i p e d i a ● D i s c l a i m e r s ● C o n t a c t W i k i p e d i a ● C o d e o f C o n d u c t ● D e v e l o p e r s ● S t a t i s t i c s ● C o o k i e s t a t e m e n t ● M o b i l e v i e w
