DISEASES

Disease-gene associations mined from literature

Literature on ADHFE1

ADHFE1 [ENSP00000379865]

Hydroxyacid-oxoacid transhydrogenase, mitochondrial; Catalyzes the cofactor-independent reversible oxidation of gamma-hydroxybutyrate (GHB) to succinic semialdehyde (SSA) coupled to reduction of 2-ketoglutarate (2-KG) to D-2-hydroxyglutarate (D-2-HG). D,L-3-hydroxyisobutyrate and L-3-hydroxybutyrate (L-3-OHB) are also substrates for HOT with 10-fold lower activities.

Synonyms:  ADHFE1,  ADHFE1p,  hADHFE1,  B4DFI7,  B4DV11 ...

Linkouts:  STRING  Pharos  UniProt  OMIM