Gene Symbol | SLC25A12 |
Entrez Gene ID | 8604 |
Full Name | solute carrier family 25 member 12 |
Synonyms | AGC1,ARALAR,EIEE39 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | 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]. |
Disorder MIM: | |
Disorder Html: | Epileptic encephalopathy, early infantile, 39, 612949 (3) |