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.
应用类型
WB
免疫原
Recombinant fusion protein containing a sequence corresponding to amino acids 1-280 of human DHTKD1 (NP_061176.3).
