Aliases for DHTKD1 Gene
External Ids for DHTKD1 Gene
Previous GeneCards Identifiers 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 autosomal dominant charcot-marie-tooth disease type 2q and 2-aminoadipic 2-oxoadipic aciduria. Among its related pathways are Integrated Breast Cancer Pathway. GO annotations related to this gene include oxidoreductase activity, acting on the aldehyde or oxo group of donors, disulfide as acceptor 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).