Aliases for SLC25A1 Gene
External Ids for SLC25A1 Gene
Previous HGNC Symbols for SLC25A1 Gene
Previous GeneCards Identifiers for SLC25A1 Gene
This gene encodes a member of the mitochondrial carrier subfamily of solute carrier proteins. Members of this family include nuclear-encoded transporters that translocate small metabolites across the mitochondrial membrane. This protein regulates the movement of citrate across the inner membranes of the mitochondria. Mutations in this gene have been associated with combined D-2- and L-2-hydroxyglutaric aciduria. Pseudogenes of this gene have been identified on chromosomes 7, 11, 16, and 19. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2013]
GeneCards Summary for SLC25A1 Gene
SLC25A1 (Solute Carrier Family 25 Member 1) is a Protein Coding gene. Diseases associated with SLC25A1 include Combined D-2- And L-2-Hydroxyglutaric Aciduria and Myasthenic Syndrome, Congenital, 23, Presynaptic. Among its related pathways are Glucose metabolism and Fatty Acyl-CoA Biosynthesis. Gene Ontology (GO) annotations related to this gene include citrate transmembrane transporter activity. An important paralog of this gene is SLC25A13.
UniProtKB/Swiss-Prot Summary for SLC25A1 Gene
Citrate transporter that mediates the exchange of mitochondrial citrate for cytosolic malate (PubMed:29031613, PubMed:29238895). Also able to mediate the exchange of citrate for isocitrate, phosphoenolpyruvate, cis- but not trans-aconitate and to a lesser extend maleate and succinate (PubMed:29031613). Important for the bioenergetics of hepatic cells as it provides a carbon source for fatty acid and sterol biosyntheses, and NAD(+) for the glycolytic pathway. Required for proper neuromuscular junction formation (Probable).