Aliases for DHTKD1 Gene
External Ids for DHTKD1 Gene
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]
GeneCards Summary for DHTKD1 Gene
DHTKD1 (Dehydrogenase E1 And Transketolase Domain Containing 1) is a Protein Coding gene. Diseases associated with DHTKD1 include charcot-marie-tooth disease, axonal, type 2q and 2-aminoadipic 2-oxoadipic aciduria. Among its related pathways are Integrated Breast Cancer Pathway. GO annotations related to this gene include thiamine pyrophosphate binding and oxoglutarate dehydrogenase (succinyl-transferring) activity. An important paralog of this gene is OGDH.
UniProtKB/Swiss-Prot for DHTKD1 Gene
The 2-oxoglutarate dehydrogenase complex catalyzes the overall conversion of 2-oxoglutarate to succinyl-CoA and CO(2). It contains multiple copies of three enzymatic components: 2-oxoglutarate dehydrogenase (E1), dihydrolipoamide succinyltransferase (E2) and lipoamide dehydrogenase (E3) (By similarity).