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Structural highlights

Disease

S52A2_HUMAN RFVT2-related riboflavin transporter deficiency. The disease is caused by variants affecting the gene represented in this entry.

Function

S52A2_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:22864630, PubMed:23243084, PubMed:24253200, PubMed:27702554). Humans are unable to synthesize vitamin B2/riboflavin and must obtain it via intestinal absorption (PubMed:20463145). May also act as a receptor for 4-hydroxybutyrate (Probable).^{[1] [2] [3] [4] [5] [6] [7]} (Microbial infection) In case of infection by retroviruses, acts as a cell receptor to retroviral envelopes similar to the porcine endogenous retrovirus (PERV-A).^{[8] [9]}

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. ↑ Haack TB, Makowski C, Yao Y, Graf E, Hempel M, Wieland T, Tauer U, Ahting U, Mayr JA, Freisinger P, Yoshimatsu H, Inui K, Strom TM, Meitinger T, Yonezawa A, Prokisch H. Impaired riboflavin transport due to missense mutations in SLC52A2 causes Brown-Vialetto-Van Laere syndrome. J Inherit Metab Dis. 2012 Nov;35(6):943-8. PMID:22864630 doi:10.1007/s10545-012-9513-y
3. ↑ Ciccolella M, Corti S, Catteruccia M, Petrini S, Tozzi G, Rizza T, Carrozzo R, Nizzardo M, Bordoni A, Ronchi D, D'Amico A, Rizzo C, Comi GP, Bertini E. Riboflavin transporter 3 involvement in infantile Brown-Vialetto-Van Laere disease: two novel mutations. J Med Genet. 2013 Feb;50(2):104-7. PMID:23243084 doi:10.1136/jmedgenet-2012-101204
4. ↑ Foley AR, Menezes MP, Pandraud A, Gonzalez MA, Al-Odaib A, Abrams AJ, Sugano K, Yonezawa A, Manzur AY, Burns J, Hughes I, McCullagh BG, Jungbluth H, Lim MJ, Lin JP, Megarbane A, Urtizberea JA, Shah AH, Antony J, Webster R, Broomfield A, Ng J, Mathew AA, O'Byrne JJ, Forman E, Scoto M, Prasad M, O'Brien K, Olpin S, Oppenheim M, Hargreaves I, Land JM, Wang MX, Carpenter K, Horvath R, Straub V, Lek M, Gold W, Farrell MO, Brandner S, Phadke R, Matsubara K, McGarvey ML, Scherer SS, Baxter PS, King MD, Clayton P, Rahman S, Reilly MM, Ouvrier RA, Christodoulou J, Züchner S, Muntoni F, Houlden H. Treatable childhood neuronopathy caused by mutations in riboflavin transporter RFVT2. Brain. 2014 Jan;137(Pt 1):44-56. PMID:24253200 doi:10.1093/brain/awt315
5. ↑ 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
6. ↑ 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
7. ↑ Andriamampandry C, Taleb O, Kemmel V, Humbert JP, Aunis D, Maitre M. Cloning and functional characterization of a gamma-hydroxybutyrate receptor identified in the human brain. FASEB J. 2007 Mar;21(3):885-95. PMID:17197387 doi:10.1096/fj.06-6509com
8. ↑ Ericsson TA, Takeuchi Y, Templin C, Quinn G, Farhadian SF, Wood JC, Oldmixon BA, Suling KM, Ishii JK, Kitagawa Y, Miyazawa T, Salomon DR, Weiss RA, Patience C. Identification of receptors for pig endogenous retrovirus. Proc Natl Acad Sci U S A. 2003 May 27;100(11):6759-64. PMID:12740431 doi:10.1073/pnas.1138025100
9. ↑ Mazari PM, Linder-Basso D, Sarangi A, Chang Y, Roth MJ. Single-round selection yields a unique retroviral envelope utilizing GPR172A as its host receptor. Proc Natl Acad Sci U S A. 2009 Apr 7;106(14):5848-53. PMID:19307586 doi:10.1073/pnas.0809741106