Aliases for SLC25A20 Gene
External Ids for SLC25A20 Gene
Previous HGNC Symbols for SLC25A20 Gene
Previous GeneCards Identifiers for SLC25A20 Gene
This gene product is one of several closely related mitochondrial-membrane carrier proteins that shuttle substrates between cytosol and the intramitochondrial matrix space. This protein mediates the transport of acylcarnitines into mitochondrial matrix for their oxidation by the mitochondrial fatty acid-oxidation pathway. Mutations in this gene are associated with carnitine-acylcarnitine translocase deficiency, which can cause a variety of pathological conditions such as hypoglycemia, cardiac arrest, hepatomegaly, hepatic dysfunction and muscle weakness, and is usually lethal in new born and infants. [provided by RefSeq, Jul 2008]
GeneCards Summary for SLC25A20 Gene
SLC25A20 (Solute Carrier Family 25 Member 20) is a Protein Coding gene. Diseases associated with SLC25A20 include carnitine-acylcarnitine translocase deficiency and fatty acid oxidation disorders. Among its related pathways are Regulation of lipid metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha) and Import of palmitoyl-CoA into the mitochondrial matrix. An important paralog of this gene is SLC25A29.
UniProtKB/Swiss-Prot for SLC25A20 Gene
Mediates the transport of acylcarnitines of different length across the mitochondrial inner membrane from the cytosol to the mitochondrial matrix for their oxidation by the mitochondrial fatty acid-oxidation pathway.