Novel Riboflavin Transporter Family RFVT/SLC52: Identification, Nomenclature, Functional Characterization and Genetic Diseases of RFVT/SLC52

Mol Aspects Med. Apr-Jun 2013;34(2-3):693-701. doi: 10.1016/j.mam.2012.07.014.

Abstract

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.

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Absorption
  • Bulbar Palsy, Progressive / genetics
  • Bulbar Palsy, Progressive / metabolism
  • Cloning, Molecular
  • Hearing Loss, Sensorineural / genetics
  • Hearing Loss, Sensorineural / metabolism
  • Humans
  • Membrane Transport Proteins / genetics*
  • Membrane Transport Proteins / metabolism
  • Membrane Transport Proteins / physiology*
  • Models, Molecular*
  • Molecular Structure
  • Multiple Acyl Coenzyme A Dehydrogenase Deficiency / genetics
  • Multiple Acyl Coenzyme A Dehydrogenase Deficiency / metabolism
  • Phenotype*
  • Phylogeny
  • Polymorphism, Genetic
  • Receptors, G-Protein-Coupled / genetics*
  • Receptors, G-Protein-Coupled / metabolism
  • Receptors, G-Protein-Coupled / physiology*
  • Riboflavin / metabolism*

Substances

  • Membrane Transport Proteins
  • Receptors, G-Protein-Coupled
  • SLC52A2 protein, human
  • SLC52A3 protein, human
  • Riboflavin

Supplementary concepts

  • Brown-Vialetto-Van Laere syndrome