Dhtkd1 - dehydrogenase E1 and transketolase domain containing 1

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]