Aliases for SLC52A2 Gene
External Ids for SLC52A2 Gene
Previous HGNC Symbols for SLC52A2 Gene
Previous GeneCards Identifiers for SLC52A2 Gene
This gene encodes a membrane protein which belongs to the riboflavin transporter family. In humans, riboflavin must be obtained by intestinal absorption because it cannot be synthesized by the body. The water-soluble vitamin riboflavin is processed to the coenzymes flavin mononucleotide (FMN) and flavin adenine dinucleotide (FAD) which then act as intermediaries in many cellular metabolic reactions. Paralogous members of the riboflavin transporter gene family are located on chromosomes 17 and 20. Unlike other members of this family, this gene has higher expression in brain tissue than small intestine. Alternative splicing of this gene results in multiple transcript variants encoding the same protein. Mutations in this gene have been associated with Brown-Vialetto-Van Laere syndrome 2 - an autosomal recessive progressive neurologic disorder characterized by deafness, bulbar dysfunction, and axial and limb hypotonia. [provided by RefSeq, Jul 2012]
GeneCards Summary for SLC52A2 Gene
SLC52A2 (Solute Carrier Family 52 Member 2) is a Protein Coding gene. Diseases associated with SLC52A2 include Brown-Vialetto-Van Laere Syndrome 2 and Spinocerebellar Ataxia, Autosomal Recessive 3. Among its related pathways are Metabolism and Metabolism of water-soluble vitamins and cofactors. GO annotations related to this gene include virus receptor activity and riboflavin transporter activity. An important paralog of this gene is SLC52A1.
UniProtKB/Swiss-Prot for SLC52A2 Gene
Riboflavin transporter. Riboflavin transport is Na(+)-independent but moderately pH-sensitive. Activity is strongly inhibited by riboflavin analogs, such as lumiflavin. Weakly inhibited by flavin adenine dinucleotide (FAD) and flavin mononucleotide (FMN). In case of infection by retroviruses, acts as a cell receptor to retroviral envelopes similar to the porcine endogenous retrovirus (PERV-A).