Structural highlights
Disease
[CMC1_HUMAN] Epileptic encephalopathy with global cerebral demyelination. The disease is caused by mutations affecting the gene represented in this entry.
Function
[CMC1_HUMAN] Catalyzes the calcium-dependent exchange of cytoplasmic glutamate with mitochondrial aspartate across the mitochondrial inner membrane. May have a function in the urea cycle.[1]
References
- ↑ Palmieri L, Pardo B, Lasorsa FM, del Arco A, Kobayashi K, Iijima M, Runswick MJ, Walker JE, Saheki T, Satrustegui J, Palmieri F. Citrin and aralar1 are Ca(2+)-stimulated aspartate/glutamate transporters in mitochondria. EMBO J. 2001 Sep 17;20(18):5060-9. PMID:11566871 doi:https://dx.doi.org/10.1093/emboj/20.18.5060
