| 1308092 | Dhtkd1 | dehydrogenase E1 and transketolase domain containing 1 | ENCODES a protein that exhibits 2-oxoadipate dehydrogenase activity (ortholog); INVOLVED IN generation of precursor metabolites and energy (ortholog); hematopoietic progenitor cell differentiation (ortholog); PARTICIPATES IN 2-aminoadipic 2-oxoadipic aciduria pathway; glutaric aciduria type I pathwa y; hyperlysinemia pathway; ASSOCIATED WITH 2-aminoadipic 2-oxoadipic aciduria (ortholog); Charcot-Marie-Tooth disease axonal type 2Q (ortholog); Charcot-Marie-Tooth Disease Type 2A2 (ortholog); FOUND IN mitochondrion (ortholog); oxoadipate dehydrogenase complex (ortholog); INTERACTS WITH (+)-schisandrin B; 1-naphthyl isothiocyanate; 17beta-estradiol | 17 | 77242512 | 77316074 | Rat | 137 | symbol , PhenoGen | gene, protein-coding, PROVISIONAL [RefSeq] |
| 1317663 | DHTKD1 | dehydrogenase E1 and transketolase domain containing 1 | 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. [pr ovided by RefSeq, May 2013] | 10 | 12068954 | 12123221 | Human | 237 | symbol , COSMIC , Human Proteome Map | gene, protein-coding, REVIEWED [RefSeq] |
| 1317664 | Dhtkd1 | dehydrogenase E1 and transketolase domain containing 1 | Predicted to enable 2-oxoadipate dehydrogenase activity; oxoglutarate dehydrogenase (succinyl-transferring) activity; and thiamine pyrophosphate binding activity. Acts upstream of or within hematopoietic progenitor cell differentiation. Predicted to be located in mitochondrion. Predicted to be part of oxoadipate dehydrogenase complex. Used to study 2-aminoadipic 2-oxoadipic aciduria and Charcot-Marie-Tooth disease axonal type 2Q. Human ortholog(s) of this gene implicated in 2-aminoadipic 2-oxoadipic aciduria and Charcot-Marie-Tooth disease axonal type 2Q. Orthologous to human DHTKD1 (dehydrogenase E1 and transketolase domain containing 1). [provided by Alliance of Genome Resources, Apr 2025] | 2 | 5901030 | 5947648 | Mouse | 184 | symbol , PhenoGen , description | gene, protein-coding, VALIDATED [RefSeq] |
| 8990641 | Dhtkd1 | dehydrogenase E1 and transketolase domain containing 1 | ENCODES a protein that exhibits 2-oxoadipate dehydrogenase activity (ortholog); INVOLVED IN generation of precursor metabolites and energy (ortholog); hematopoietic progenitor cell differentiation (ortholog); PARTICIPATES IN 2-aminoadipic 2-oxoadipic aciduria pathway; glutaric aciduria type I pathwa y; hyperlysinemia pathway; ASSOCIATED WITH 2-aminoadipic 2-oxoadipic aciduria (ortholog); Charcot-Marie-Tooth disease axonal type 2Q (ortholog); Charcot-Marie-Tooth Disease Type 2A2 (ortholog); FOUND IN mitochondrion (ortholog); oxoadipate dehydrogenase complex (ortholog) | NW_004955462 | 103501 | 163472 | Chinchilla | 23 | symbol | gene, protein-coding, MODEL [RefSeq] |
| 11775428 | DHTKD1 | dehydrogenase E1 and transketolase domain containing 1 | ENCODES a protein that exhibits 2-oxoadipate dehydrogenase activity (inferred); oxidoreductase activity (inferred); oxidoreductase activity, acting on the aldehyde or oxo group of donors, disulfide as acceptor (inferred); INVOLVED IN hematopoietic progenitor cell differentiation (ortholog); PARTICIP ATES IN 2-aminoadipic 2-oxoadipic aciduria pathway; glutaric aciduria type I pathway; hyperlysinemia pathway; ASSOCIATED WITH 2-aminoadipic 2-oxoadipic aciduria (ortholog); Charcot-Marie-Tooth disease axonal type 2Q (ortholog); Charcot-Marie-Tooth Disease Type 2A2 (ortholog); FOUND IN mitochondrial matrix (inferred); mitochondrion (inferred); oxoadipate dehydrogenase complex (inferred) | 10 | 12073324 | 12130589 | Bonobo | 28 | symbol | gene, protein-coding, MODEL [RefSeq] |
| 12073319 | DHTKD1 | dehydrogenase E1 and transketolase domain containing 1 | ENCODES a protein that exhibits 2-oxoadipate dehydrogenase activity (inferred); oxidoreductase activity (inferred); oxidoreductase activity, acting on the aldehyde or oxo group of donors, disulfide as acceptor (inferred); INVOLVED IN hematopoietic progenitor cell differentiation (ortholog); PARTICIP ATES IN 2-aminoadipic 2-oxoadipic aciduria pathway; glutaric aciduria type I pathway; hyperlysinemia pathway; ASSOCIATED WITH 2-aminoadipic 2-oxoadipic aciduria (ortholog); Charcot-Marie-Tooth disease axonal type 2Q (ortholog); Charcot-Marie-Tooth Disease Type 2A2 (ortholog); FOUND IN mitochondrion (inferred); oxoadipate dehydrogenase complex (inferred) | 2 | 24298323 | 24349848 | Dog | 27 | symbol | gene, protein-coding, MODEL [RefSeq] |
| 12555428 | Dhtkd1 | dehydrogenase E1 and transketolase domain containing 1 | ENCODES a protein that exhibits 2-oxoadipate dehydrogenase activity (inferred); oxidoreductase activity (inferred); oxidoreductase activity, acting on the aldehyde or oxo group of donors, disulfide as acceptor (inferred); INVOLVED IN hematopoietic progenitor cell differentiation (ortholog); PARTICIP ATES IN 2-aminoadipic 2-oxoadipic aciduria pathway; glutaric aciduria type I pathway; hyperlysinemia pathway; ASSOCIATED WITH 2-aminoadipic 2-oxoadipic aciduria (ortholog); Charcot-Marie-Tooth disease axonal type 2Q (ortholog); Charcot-Marie-Tooth Disease Type 2A2 (ortholog); FOUND IN mitochondrion (inferred); oxoadipate dehydrogenase complex (inferred) | NW_004936484 | 3207650 | 3251661 | Squirrel | 27 | symbol | gene, protein-coding, MODEL [RefSeq] |
| 18668902 | DHTKD1 | dehydrogenase E1 and transketolase domain containing 1 | ENCODES a protein that exhibits 2-oxoadipate dehydrogenase activity (inferred); oxidoreductase activity (inferred); oxidoreductase activity, acting on the aldehyde or oxo group of donors, disulfide as acceptor (inferred); INVOLVED IN hematopoietic progenitor cell differentiation (ortholog); PARTICIP ATES IN 2-aminoadipic 2-oxoadipic aciduria pathway; glutaric aciduria type I pathway; hyperlysinemia pathway; ASSOCIATED WITH 2-aminoadipic 2-oxoadipic aciduria (ortholog); Charcot-Marie-Tooth disease axonal type 2Q (ortholog); Charcot-Marie-Tooth Disease Type 2A2 (ortholog); FOUND IN mitochondrial matrix (inferred); mitochondrion (inferred); oxoadipate dehydrogenase complex (inferred) | | | | Green Monkey | 28 | symbol | gene, protein-coding, MODEL [RefSeq] |
| 155254786 | dhtkd1 | | | | | | Tropical Clawed Frog | | symbol | gene, null |
| 625869604 | Dhtkd1 | dehydrogenase E1 and transketolase domain containing 1 | ENCODES a protein that exhibits 2-oxoadipate dehydrogenase activity (ortholog); INVOLVED IN generation of precursor metabolites and energy (ortholog); hematopoietic progenitor cell differentiation (ortholog); PARTICIPATES IN 2-aminoadipic 2-oxoadipic aciduria pathway; glutaric aciduria type I pathwa y; hyperlysinemia pathway; ASSOCIATED WITH 2-aminoadipic 2-oxoadipic aciduria (ortholog); Charcot-Marie-Tooth disease axonal type 2Q (ortholog); Charcot-Marie-Tooth Disease Type 2A2 (ortholog); FOUND IN mitochondrion (ortholog); oxoadipate dehydrogenase complex (ortholog) | | | | Black Rat | 23 | symbol | gene, protein-coding, MODEL [RefSeq] |
| 18904348 | Dhtkd1 | dehydrogenase E1 and transketolase domain containing 1 | ENCODES a protein that exhibits 2-oxoadipate dehydrogenase activity (ortholog); INVOLVED IN generation of precursor metabolites and energy (ortholog); hematopoietic progenitor cell differentiation (ortholog); PARTICIPATES IN 2-aminoadipic 2-oxoadipic aciduria pathway; glutaric aciduria type I pathwa y; hyperlysinemia pathway; ASSOCIATED WITH 2-aminoadipic 2-oxoadipic aciduria (ortholog); Charcot-Marie-Tooth disease axonal type 2Q (ortholog); Charcot-Marie-Tooth Disease Type 2A2 (ortholog); FOUND IN oxoadipate dehydrogenase complex (ortholog) | | | | Naked Mole-Rat | 26 | symbol | gene, protein-coding, MODEL [RefSeq] |
| 20866973 | DHTKD1 | dehydrogenase E1 and transketolase domain containing 1 | | | | | Green Monkey | | symbol | gene, protein-coding |
| 13902749 | DHTKD1 | dehydrogenase E1 and transketolase domain containing 1 | ENCODES a protein that exhibits 2-oxoadipate dehydrogenase activity (inferred); oxidoreductase activity (inferred); oxidoreductase activity, acting on the aldehyde or oxo group of donors, disulfide as acceptor (inferred); INVOLVED IN hematopoietic progenitor cell differentiation (ortholog); PARTICIP ATES IN 2-aminoadipic 2-oxoadipic aciduria pathway; glutaric aciduria type I pathway; hyperlysinemia pathway; ASSOCIATED WITH 2-aminoadipic 2-oxoadipic aciduria (ortholog); Charcot-Marie-Tooth disease axonal type 2Q (ortholog); Charcot-Marie-Tooth Disease Type 2A2 (ortholog); FOUND IN mitochondrion (inferred); oxoadipate dehydrogenase complex (inferred); INTERACTS WITH deoxynivalenol | | | | Pig | 28 | symbol | gene, protein-coding, MODEL [RefSeq] |
| 155233923 | dhtkd1.L | | | | | | African Clawed Frog | | symbol | gene, null |