Gene Symbol | DHTKD1 |
Entrez Gene ID | 55526 |
Full Name | dehydrogenase E1 and transketolase domain containing 1 |
Synonyms | AMOXAD,CMT2Q |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | 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]. |
Disorder MIM: | |
Disorder Html: | 2-aminoadipic 2-oxoadipic aciduria, 204750 (3); ?Charcot-Marie-Tooth disease, axonal, type 2Q, 615025 (3) |