Protein Name | solute carrier family 25 member 12 |
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Organism | Homo sapiens |
Gene ID | 8604 |
Gene Symbol | SLC25A12 |
UniProt | O75746 (CMC1_HUMAN) |
Relationships |
Total Number of functionally related compound(s) :
23
Total Number of Articles : 35 |
Description |
solute carrier family 25 member 12 |
Gene 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] |
synonyms |
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Properties | |