Disease-gene associations mined from literature

Literature associating DHTKD1 and 2-aminoadipic 2-oxoadipic aciduria

DHTKD1 [ENSP00000263035]

Probable 2-oxoglutarate dehydrogenase E1 component DHKTD1, mitochondrial; The 2-oxoglutarate dehydrogenase complex catalyzes the overall conversion of 2-oxoglutarate to succinyl-CoA and CO(2). It contains multiple copies of three enzymatic components: 2- oxoglutarate dehydrogenase (E1), dihydrolipoamide succinyltransferase (E2) and lipoamide dehydrogenase (E3) (By similarity).

Synonyms:  DHTKD1,  DHTKD1p,  hDHTKD1,  C9JWN1,  H7C1J3 ...

Linkouts:  STRING  Pharos  UniProt  OMIM