Dhtkd1 - dehydrogenase E1 and transketolase domain containing 1 Gene
Also Known as E1a; OADC-E1; OADH-E1; C330018I04Rik
Species: Mus musculus
Summary
Predicted to enable oxoglutarate dehydrogenase (succinyl-transferring) activity and thiamine pyrophosphate binding activity. Acts upstream of or within hematopoietic progenitor cell differentiation. Predicted to be located in mitochondrion. Used to study Charcot-Marie-Tooth disease axonal type 2Q and amino acid metabolic disorder. Human ortholog(s) of this gene implicated in 2-aminoadipic 2-oxoadipic aciduria and Charcot-Marie-Tooth disease axonal type 2Q. Orthologous to human DHTKD1 (dehydrogenase E1 and Transketolase domain containing 1). [provided by Alliance of Genome Resources, Apr 2022]
Dhtkd1 Products (1)
| mRNA | Protein | Name |
|---|---|---|
| NM_001081131.2 | NP_001074600.1 | 2-oxoadipate dehydrogenase complex component E1 |
| Biological Process GO Annotation | Evidence | References | Source |
|---|---|---|---|
| acts upstream of or within hematopoietic progenitor cell differentiation |
IGI
IGI: Inferred from genetic interaction
|
24029230 | MGI |
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
2-oxoadipate dehydrogenase complex component E1 probable 2-oxoglutarate dehydrogenase E1 component DHKTD1, mitochondrial |
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