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. GO annotations related to this gene include riboflavin transporter activity. An important paralog of this gene is SLC52A2.
UniProtKB/Swiss-Prot for SLC52A3 Gene
Transporter for riboflavin, which must be obtained as a nutrient via intestinal absorption. Riboflavin transport is Na(+)-independent at low pH but significantly reduced by Na(+) depletion under neutral pH conditions. Activity is strongly inhibited by riboflavin analogs, such as lumiflavin, flavin mononucleotide (FMN), flavin adenine dinucleotide (FAD), by methylene blue, and to a lesser extent by amiloride.