Structural highlights
Disease
[CMC2_HUMAN] Citrullinemia type II;Neonatal intrahepatic cholestasis due to citrin deficiency. The disease is caused by mutations affecting the gene represented in this entry. The disease is caused by mutations affecting the gene represented in this entry.
Function
[CMC2_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:http://dx.doi.org/10.1093/emboj/20.18.5060
