DHTKD1, Official Symbol DHTKD1provided by HGNC Official Full Name dehydrogenase E1 and transketolase domain containing 1provided by HGNC Primary source HGNC:HGNC:23537 See related Ensembl:ENSG00000181192 MIM:614984; AllianceGenome:HGNC:23537 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as E1a; AAKAD; CMT2Q; AMOXAD; OADC-E1; OADH-E1 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] Expression Broad expression in liver (RPKM 30.3), kidney (RPKM 21.7) and 24 other tissues See more Orthologs mouse all