Aliases for SLC25A15 Gene
External Ids for SLC25A15 Gene
Previous HGNC Symbols for SLC25A15 Gene
Previous GeneCards Identifiers for SLC25A15 Gene
This gene is a member of the mitochondrial carrier family. The encoded protein transports ornithine across the inner mitochondrial membrane from the cytosol to the mitochondrial matrix. The protein is an essential component of the urea cycle, and functions in ammonium detoxification and biosynthesis of the amino acid arginine. Mutations in this gene result in hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome. There is a pseudogene of this locus on the Y chromosome.[provided by RefSeq, May 2009]
GeneCards Summary for SLC25A15 Gene
SLC25A15 (Solute Carrier Family 25 Member 15) is a Protein Coding gene. Diseases associated with SLC25A15 include Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome and Gyrate Atrophy Of Choroid And Retina. Among its related pathways are Viral mRNA Translation and Regulation of activated PAK-2p34 by proteasome mediated degradation. Gene Ontology (GO) annotations related to this gene include L-ornithine transmembrane transporter activity. An important paralog of this gene is SLC25A2.
UniProtKB/Swiss-Prot Summary for SLC25A15 Gene
Ornithine-citrulline antiporter. Connects the cytosolic and the intramitochondrial reactions of the urea cycle by exchanging cytosolic ornithine with matrix citrulline (PubMed:12807890). The stoichiometry is close to 1:1 (By similarity).