Dhtkd1 - dehydrogenase E1 and transketolase domain containing 1 Gene

Also Known as E1a; OADC-E1; OADH-E1; C330018I04Rik

Species: Mus musculus

Gene Type: protein coding
Gene ID: 209692

Summary

Predicted to enable 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. Used to study Charcot-Marie-Tooth disease axonal type 2Q and amino acid metabolic disorder. 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 2022]

Dhtkd1 Products (1)

mRNA Protein Name
NM_001081131.2 NP_001074600.1 2-oxoadipate dehydrogenase complex component E1
Biological Process GO Annotation Evidence References Source
acts upstream of or within hematopoietic progenitor cell differentiation IGI
IGI: Inferred from genetic interaction
24029230 MGI
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern
Protein Preferred Names Protein Names

2-oxoadipate dehydrogenase complex component E1

probable 2-oxoglutarate dehydrogenase E1 component DHKTD1, mitochondrial

  • 2-oxoadipate dehydrogenase, mitochondrial

  • alpha-KADH-E1

  • alpha-ketoadipate dehydrogenase

  • dehydrogenase E1 and transketolase domain-containing protein 1

Orthologs Information

Species Symbol Source ID
Homo sapiens Dhtkd1 NCBI NCBI:55526