Aliases for SLC25A12 Gene
External Ids for SLC25A12 Gene
Previous GeneCards Identifiers for SLC25A12 Gene
This gene encodes a calcium-binding mitochondrial carrier protein. The encoded protein localizes to the mitochondria and is involved in the exchange of aspartate for glutamate across the inner mitochondrial membrane. Polymorphisms in this gene may be associated with autism, and mutations in this gene may also be a cause of global cerebral hypomyelination. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Apr 2012]
GeneCards Summary for SLC25A12 Gene
SLC25A12 (Solute Carrier Family 25 Member 12) is a Protein Coding gene. Diseases associated with SLC25A12 include Epileptic Encephalopathy, Early Infantile, 39 and Asperger Syndrome. Among its related pathways are Mitochondrial protein import and Glycosaminoglycan metabolism. Gene Ontology (GO) annotations related to this gene include calcium ion binding and L-aspartate transmembrane transporter activity. An important paralog of this gene is SLC25A13.
UniProtKB/Swiss-Prot Summary for SLC25A12 Gene
Mitochondrial and calcium-binding carrier that catalyzes the calcium-dependent exchange of cytoplasmic glutamate with mitochondrial aspartate across the mitochondrial inner membrane (PubMed:11566871, PubMed:25410934). May have a function in the urea cycle (PubMed:11566871).