Aliases for SLC52A3 Gene
External Ids for SLC52A3 Gene
Previous HGNC Symbols for SLC52A3 Gene
This gene encodes a riboflavin transporter protein that is strongly expressed in the intestine and likely plays a role in intestinal absorption of riboflavin. The protein is predicted to have eleven transmembrane domains and a cell surface localization signal in the C-terminus. Mutations at this locus have been associated with Brown-Vialetto-Van Laere syndrome and Fazio-Londe disease. [provided by RefSeq, Mar 2012]
GeneCards Summary for SLC52A3 Gene
SLC52A3 (Solute Carrier Family 52 Member 3) is a Protein Coding gene. Diseases associated with SLC52A3 include Brown-Vialetto-Van Laere Syndrome 1 and Fazio-Londe Disease. Among its related pathways are Metabolism of water-soluble vitamins and cofactors and Vitamin digestion and absorption. Gene Ontology (GO) annotations related to this gene include riboflavin transmembrane transporter activity. An important paralog of this gene is SLC52A1.
UniProtKB/Swiss-Prot Summary for SLC52A3 Gene
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).