8xsn

Structural highlights

Disease

S52A3_HUMAN RFVT3-related riboflavin transporter deficiency. The disease is caused by variants affecting the gene represented in this entry. The disease is caused by variants affecting the gene represented in this entry.

Function

S52A3_HUMAN Plasma membrane transporter mediating the uptake by cells of the water soluble vitamin B2/riboflavin that plays a key role in biochemical oxidation-reduction reactions of the carbohydrate, lipid, and amino acid metabolism (PubMed:20463145, PubMed:22273710, PubMed:24264046, PubMed:27702554). Humans are unable to synthesize vitamin B2/riboflavin and must obtain it via intestinal absorption (PubMed:20463145).^{[1] [2] [3] [4] [5]}

References

1. ↑ Yao Y, Yonezawa A, Yoshimatsu H, Masuda S, Katsura T, Inui K. Identification and comparative functional characterization of a new human riboflavin transporter hRFT3 expressed in the brain. J Nutr. 2010 Jul;140(7):1220-6. PMID:20463145 doi:10.3945/jn.110.122911
2. ↑ Nabokina SM, Subramanian VS, Said HM. Effect of clinical mutations on functionality of the human riboflavin transporter-2 (hRFT-2). Mol Genet Metab. 2012 Apr;105(4):652-7. PMID:22273710 doi:10.1016/j.ymgme.2011.12.021
3. ↑ Yoshimatsu H, Yonezawa A, Yao Y, Sugano K, Nakagawa S, Omura T, Matsubara K. Functional involvement of RFVT3/SLC52A3 in intestinal riboflavin absorption. Am J Physiol Gastrointest Liver Physiol. 2014 Jan;306(2):G102-10. PMID:24264046 doi:10.1152/ajpgi.00349.2013
4. ↑ Udhayabanu T, Subramanian VS, Teafatiller T, Gowda VK, Raghavan VS, Varalakshmi P, Said HM, Ashokkumar B. SLC52A2 [p.P141T] and SLC52A3 [p.N21S] causing Brown-Vialetto-Van Laere Syndrome in an Indian patient: First genetically proven case with mutations in two riboflavin transporters. Clin Chim Acta. 2016 Nov 1;462:210-214. PMID:27702554 doi:10.1016/j.cca.2016.09.022
5. ↑ Yao Y, Yonezawa A, Yoshimatsu H, Masuda S, Katsura T, Inui K. Identification and comparative functional characterization of a new human riboflavin transporter hRFT3 expressed in the brain. J Nutr. 2010 Jul;140(7):1220-6. PMID:20463145 doi:10.3945/jn.110.122911