Disease-gene associations mined from literature

Literature associating DLD and progressive myoclonus epilepsy 8

DLD [ENSP00000205402]

Dihydrolipoyl dehydrogenase, mitochondrial; Lipoamide dehydrogenase is a component of the glycine cleavage system as well as an E3 component of three alpha-ketoacid dehydrogenase complexes (pyruvate-, alpha-ketoglutarate-, and branched-chain amino acid-dehydrogenase complex). In monomeric form has additional moonlighting function as serine protease. Involved in the hyperactivation of spermatazoa during capacitation and in the spermatazoal acrosome reaction (By similarity).

Synonyms:  DLD,  A0A024R713,  B4DHG0,  B4DT69,  DLD-001 ...

Linkouts:  STRING  Pharos  UniProt  OMIM