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DHTKD1

Official Full Name
dehydrogenase E1 and transketolase domain containing 1
Organism
Homo sapiens
GeneID
55526
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. [provided by RefSeq, May 2013]
Synonyms
E1a; AAKAD; CMT2Q; AMOXAD; OADC-E1; OADH-E1;

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