Aliases for SLC13A5 Gene
External Ids for SLC13A5 Gene
Previous GeneCards Identifiers for SLC13A5 Gene
This gene encodes a protein belonging to the solute carrier family 13 group of proteins. This family member is a sodium-dependent citrate cotransporter that may regulate metabolic processes. Mutations in this gene cause early infantile epileptic encephalopathy 25. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2014]
GeneCards Summary for SLC13A5 Gene
SLC13A5 (Solute Carrier Family 13 Member 5) is a Protein Coding gene. Diseases associated with SLC13A5 include Epileptic Encephalopathy, Early Infantile, 25, With Amelogenesis Imperfecta and Undetermined Early-Onset Epileptic Encephalopathy. Among its related pathways are Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds. Gene Ontology (GO) annotations related to this gene include transporter activity and citrate transmembrane transporter activity. An important paralog of this gene is SLC13A2.
UniProtKB/Swiss-Prot Summary for SLC13A5 Gene
High-affinity sodium/citrate cotransporter that mediates citrate entry into cells. The transport process is electrogenic; it is the trivalent form of citrate rather than the divalent form that is recognized as a substrate. May facilitate the utilization of circulating citrate for the generation of metabolic energy and for the synthesis of fatty acids and cholesterol.