Description
Product Characteristics:
Calcium signaling in mitochondria is important in order for it to function in response to a variety of extracellular stimuli. Signaling begins with Ca(2+) entry in mitochondria via the Ca(2+) uniporter followed by Ca(2+) activation of three dehydrogenases in the mitochondrial matrix. ARALAR, the neuronal Ca(2+)-binding mitochondrial aspartate-glutamate carrier, has Ca(2+) binding domains facing the extramitochondrial space and functions in the malate-aspartate NADH shuttle (MAS). ARALAR is encoded by the SLC25A12 gene and is expressed in brain and skeletal muscle. ARALAR is required for the synthesis of brain aspartate and N-acetylaspartatemay and plays a role in myelin formation. It is also essential for the transmission of small Ca(2+) signals to mitochondria via an increase in mitochondrial NADH. In addition, ARALAR is implicated in conferring susceptibility to schizophrenia.
Subcellular location: Cytoplasm, Cell membrane
Synonyms: AGC1, Araceli hiperlarga, ARALAR, ARALAR1, Calcium binding mitochondrial carrier superfamily member, Calcium-binding mitochondrial carrier protein Aralar1, CMC1_HUMAN, Mitochondrial aspartate glutamate carrier 1, SLC25A12, Solute carrier family 25 member 12, solute carrier family 25, member 12.
Target Information: 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]