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Details on Person 2-Oxoadipate dehydrogenase complex (OADC) component E1 (DHTK...
| Class:Id | Summation:9859068 |
|---|---|
| _displayName | 2-Oxoadipate dehydrogenase complex (OADC) component E1 (DHTK... |
| _timestamp | 2024-01-15 09:16:10 |
| created | [InstanceEdit:9859030] Stephan, Ralf, 2024-01-15 |
| text | 2-Oxoadipate dehydrogenase complex (OADC) component E1 (DHTKD1) catalyzes the decarboxylation of alpha-oxoadipate (2-OA), at the same time transferring the resulting glutaryl onto the lipoyl moiety of the E2 component (DLST) which gets reduced in the process. The enzyme is a homodimer, with each monomer binding one Mg2+ ion and one thiamin molecule (Nemeria et al., 2017; Bezerra et al., 2020; Leandro et al., 2020). Mutations in DHTKD1 can cause an axonal form of Charcot-Marie-Tooth disease (CMT2Q, MIM:615025; Xu et al., 2012) and a metabolic disorder characterized by increased levels of 2-oxoadipate and 2-hydroxyadipate (AAKAD, MIM:204750; Hagen et al., 2015). There are also reports of amyotrophic lateral sclerosis (ALS) associated with DHTKD1 polymorphisms (Osmanovic et al., 2021; Menon et al., 2023). |
| (summation) | [Reaction:9858321] DHTKD1 dimer decarboxylates 2-OA [Homo sapiens] |
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No pathways have been reviewed or authored by 2-Oxoadipate dehydrogenase complex (OADC) component E1 (DHTK... (9859068)
