Journal
MOLECULAR ASPECTS OF MEDICINE
Volume 34, Issue 2-3, Pages 693-701Publisher
ELSEVIER
DOI: 10.1016/j.mam.2012.07.014
Keywords
Riboflavin; RFVT; SLC52; RFT; Multiple acyl-CoA dehydrogenase deficiency (MADD); Brown-Vialetto-Van Laere (BVVL) syndrome
Funding
- Swiss National Science Foundation through the National Center of Competence in Research (NCCR) TransCure, University of Bern, Switzerland
- Ministry of Education, Culture, Sports, Science and Technology of Japan
- Grants-in-Aid for Scientific Research [24590190] Funding Source: KAKEN
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Riboflavin, a water-soluble vitamin also known as vitamin B2, is essential for normal cellular functions. Riboflavin transporters play important roles in its homeostasis. Recently, three novel riboflavin transporters were identified, and designated as RFT1, RFT2 and RFT3. Because the RFTs did not show similarity to other SLC transporters, and RFT1 and RFT3 are similar in sequence and function, they were assigned into a new SLC family, SLC52. Subsequently, RFT1/GPR172B, RFT3/GPR172A and RFT2/C20orf54 were renamed as RFVT1/SLC52A1, RFVT2/SLC52A2 and RFVT3/SLC52A3, respectively. In this review, we summarize recent findings on the cloning, nomenclature, functional characterization and genetic diseases of RFVT1/SLC52A1, RFVT2/SLC52A2 and RFVT3/SLC52A3. (C) 2012 Elsevier Ltd. All rights reserved.
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