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Weak to moderate, granular cytoplasmic immunoreactivity was observed in most cancer tissues. Additional/or nuclear staining was exhibited in few squamous cell carcinomas, testicular and urothelial cancers. Several lymphomas and pancreatic cancers were negative.
GENE INFORMATION
Gene name
DHTKD1 (HGNC Symbol)
Synonyms
CMT2Q, DKFZP762M115, KIAA1630, MGC3090
Description
Dehydrogenase E1 and transketolase domain containing 1 (HGNC Symbol)
Entrez gene 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]
Enzymes ENZYME proteins Oxidoreductases Predicted intracellular proteins Plasma proteins Disease related genes Potential drug targets Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
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GO:0002244 [hematopoietic progenitor cell differentiation] GO:0004591 [oxoglutarate dehydrogenase (succinyl-transferring) activity] GO:0005739 [mitochondrion] GO:0006091 [generation of precursor metabolites and energy] GO:0006096 [glycolytic process] GO:0006099 [tricarboxylic acid cycle] GO:0008152 [metabolic process] GO:0016624 [oxidoreductase activity, acting on the aldehyde or oxo group of donors, disulfide as acceptor] GO:0030976 [thiamine pyrophosphate binding] GO:0045252 [oxoglutarate dehydrogenase complex] GO:0055114 [oxidation-reduction process]