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| Cat.No | ACP13788 | Target Name | DHTKD1 |
|---|---|---|---|
| Form | Lyophilized powder | Expression System | Custom Production. Please inquire and provide the desire expression system. |
| Protein Length | Partial | Purity | >85% (SDS-PAGE) |
| Storage Buffer | 5%-50% glycerol. Lyophilized powder form: the buffer before lyophilization is Tris/PBS-based buffer, 6% Trehalose, Liquid form: default storage buffer is Tris/PBS-based buffer, pH 8.0. |
| Target Species | Human | Uniprot ID | Q96HY7 |
|---|
Uniprot Id
Q96HY7
Target Species
Human
Target Name
DHTKD1
Target Full Name
2-oxoadipate dehydrogenase complex component E1
Target Function
The 2-oxoglutarate dehydrogenase complex catalyzes the overall conversion of 2-oxoglutarate to succinyl-CoA and CO(2). It contains multiple copies of three enzymatic components: 2-oxoglutarate dehydrogenase (E1), dihydrolipoamide succinyltransferase (E2) and lipoamide dehydrogenase (E3).
Target Involvement
Charcot-Marie-Tooth disease 2Q (CMT2Q); 2-aminoadipic 2-oxoadipic aciduria (AMOXAD)
Target Subcellular Location
Mitochondrion.
Target Protein Families
Alpha-ketoglutarate dehydrogenase family
Target Synonyms
AMOXAD; CMT2Q; Dehydrogenase E1 and transketolase domain containing 1; Dehydrogenase E1 and transketolase domain containing protein 1; Dehydrogenase E1 and transketolase domain-containing protein 1; DHTK1_HUMAN; dhtkd1; DKFZp762M115; KIAA1630; MGC3090; Probable 2 oxoglutarate dehydrogenase E1 component DHKTD1 mitochondrial; Probable 2-oxoglutarate dehydrogenase E1 component DHKTD1; mitochondrial
Target Background
This gene encodes a component of a mitochondrial 2-oxoglutarate-dehydrogenase-complex-like protein involved in the degradation pathways of several amino acids, including lysine. Mutations in this gene are associated with 2-aminoadipic 2-oxoadipic aciduria and Charcot-Marie-Tooth Disease Type 2Q.
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