SLC25A12, ARALAR1, Calcium-binding mitochondrial carrier protein Aralar1, Mitochondrial aspartate glutamate carrier 1, Solute carrier family 25 member 12
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],function:Calcium-dependent mitochondrial aspartate and glutamate carrier. May have a function in the urea cycle.,miscellaneous:Binds calcium.,similarity:Belongs to the mitochondrial carrier family.,similarity:Contains 3 Solcar repeats.,similarity:Contains 4 EF-hand domains.,tissue specificity:High levels in heart and skeletal muscle, low in brain and very low in kidney.,
