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Details on Person Calcium-binding mitochondrial carrier proteins SLC25A12 (Ara...
| Class:Id | Summation:372495 |
|---|---|
| _displayName | Calcium-binding mitochondrial carrier proteins SLC25A12 (Ara... |
| _timestamp | 2023-12-29 09:48:41 |
| created | [InstanceEdit:372446] D'Eustachio, P, 2008-06-26 18:02:55 |
| modified | [InstanceEdit:376871] D'Eustachio, P, 2008-09-10 19:02:07 [InstanceEdit:377569] D'Eustachio, P, 2008-09-15 16:42:29 [InstanceEdit:8964205] Jassal, Bijay, 2017-02-16 [InstanceEdit:9856987] Stephan, Ralf, 2023-12-29 |
| text | Calcium-binding mitochondrial carrier proteins SLC25A12 (Aralar, AGC1) and SLC25A13 (Citrin, Aralar2, AGC2), located in the inner mitochondrial membrane, mediate the exchange of cytosolic aspartate and mitochondrial glutamate (Palmieri et al., 2001; González-Moreno et al., 2023). The exchange is physiologically irreversible because of the potential across the inner mitochondrial membrane (positive outside, negative inside). In the body, SLC25A12 is found mainly in the heart, skeletal muscle, and brain, while SCL25A13 is widely expressed but most abundant in the liver (del Arco et al., 2000; Palmieri et al., 2001). Mutations in SLC25A12 can cause a form of early-onset epileptic encephalopathy (DEE39, MIM:612949; Wibom et al., 2009; reviewed in Pardo et al., 2022). Defects in SLC25A13 are associated with type II citrullinemia, characterized by a liver-specific deficiency of the urea cycle enzyme argininosuccinate synthase (Kobayashi et al., 1999, Saheki et al., 2002; González-Moreno et al., 2023; reviewed in Hayasaka, 2021) |
| (summation) | [Reaction:372448] SLC25A12,13 exchange L-Glu and L-Asp [Homo sapiens] |
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No pathways have been reviewed or authored by Calcium-binding mitochondrial carrier proteins SLC25A12 (Ara... (372495)
