Dehydrogenase E1 and transketolase domain containing 1 is a protein that in humans is encoded by the 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.[5]
^ abcGRCh38: Ensembl release 89: ENSG00000181192 – Ensembl, May 2017
^ abcGRCm38: Ensembl release 89: ENSMUSG00000025815 – Ensembl, May 2017
^"Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^"Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^"Entrez Gene: Dehydrogenase E1 and transketolase domain containing 1".
pyridoxine-dependent epilepsia (ALDH7A1 gene), α-ketoadipic and α-aminoadipic aciduria (DHTKD1 gene), and glutaric aciduria type 1 (GCDH gene). Hyperlysinuria is marked...
NAA10 in Lenz microphthalmia syndrome (Esmailpour et al, JMG, 2014), and DHTKD1 and OGDHL in eosinophilic esophagitis (Sherrill et al, 2018, JCI Insight)...