| created | [InstanceEdit:179407] Gopinathrao, G, 2006-04-27 13:13:48 |
| dbId | 179268 |
| displayName | SLC25A1, in the inner mitochondrial membrane, mediates the e... |
| literatureReference | |
| modified | [InstanceEdit:9857410] Stephan, Ralf, 2024-01-04 |
| schemaClass | Summation |
| text | SLC25A1, in the inner mitochondrial membrane, mediates the exchange of mitochondrial citrate for cytosolic malate (Gnoni et al., 2009; reviewed in Zara et al., 2022). Mutations in SLC25A1 can cause neonatal-onset encephalopathy (D2L2AD, MIM:615182; Edvarson et al., 2013; Majd et al., 2018; reviewed by Zara et al., 2023) and a form of congenital myasthenic syndrome (CMS23, MIM:618197; Chaouch et al., 2014). SLC25A1 citrate export together with acetyl-CoA production by ACLY are sometimes referred to as the citrate-malate shuttle (for a review see Guo et al., 2023). |
| (summation) |
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