Selected-GenAtlas references SOURCE GeneCards NCBI Gene Swiss-Prot Ensembl
HGNC UniGene Nucleotide OMIM UCSC
Home Page
FLASH GENE
Symbol DHTKD1 contributors: mct - updated : 15-06-2011
HGNC name dehydrogenase E1 and transketolase domain containing 1
HGNC id 23537
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
HOMOLOGY
interspecies ortholog to murine Dhtkd1
Homologene
FAMILY
CATEGORY enzyme
SUBCELLULAR LOCALIZATION     intracellular
intracellular,cytoplasm,organelle,mitochondria
basic FUNCTION
  • oxidoreductase activity
  • acting on the aldehyde or oxo group of donors, disulfide as acceptor
  • mediating the last unresolved step in the L-lysine-degradation pathway
  • important role for DHTKD1 in mitochondrial energy production and neurological development
  • functions as a 2-oxoglutarate-dehydrogenase E1 component and plays an important role in energy production in mitochondria through the tricarboxylic-acid cycle
  • essential role for DHTKD1 in normal mitochondrial function and energy production
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism carbohydrate
    signaling
  • glycolysis
    • a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) AAOA , CMT2Q
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS