Automated description from the Alliance of Genome Resources (Release 7.4.0)
Predicted to enable 2-oxoadipate dehydrogenase activity; 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. Predicted to be part of oxoadipate dehydrogenase complex. Used to study 2-aminoadipic 2-oxoadipic aciduria and Charcot-Marie-Tooth disease axonal type 2Q. 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).
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