DHTKD1

DHTKD1
Identifiers
Aliases	DHTKD1, AMOXAD, CMT2Q, dehydrogenase E1 and transketolase domain containing 1, AAKAD
External IDs	OMIM: 614984; MGI: 2445096; HomoloGene: 10278; GeneCards: DHTKD1; OMA:DHTKD1 - orthologs
Gene location (Human)
Chr.	Chromosome 10 (human)
End	12,123,221 bp
Gene location (Mouse)
Chr.	Chromosome 2 (mouse)
End	5,942,792 bp
RNA expression pattern
	Top expressed in
	liver; ; right lobe of liver; ; secondary oocyte; ; parotid gland; ; ventricular zone; ; renal medulla; ; ganglionic eminence; ; kidney tubule; ; human kidney; ; gonad;
	Top expressed in
	zygote; ; liver; ; secondary oocyte; ; left lobe of liver; ; human kidney; ; spermatocyte; ; primary oocyte; ; proximal tubule; ; parotid gland; ; morula;
	More reference expression data
	n/a
Gene ontology
Molecular function	thiamine pyrophosphate binding; oxidoreductase activity; oxidoreductase activity, acting on the aldehyde or oxo group of donors, disulfide as acceptor; oxoglutarate dehydrogenase (succinyl-transferring) activity;
Cellular component	oxoglutarate dehydrogenase complex; cytosol; mitochondrial matrix; mitochondrion;
Biological process	metabolism; tricarboxylic acid cycle; glycolytic process; generation of precursor metabolites and energy; hematopoietic progenitor cell differentiation;
	Sources:Amigo / QuickGO
Orthologs
	55526
	209692
	ENSG00000181192
	ENSMUSG00000025815
	Q96HY7
	A2ATU0
	NM_018706
	NM_001081131
	NP_061176
	NP_001074600
	Wikidata
View/Edit Human	View/Edit Mouse

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.