Disease-gene associations mined from literature

Literature associating AKR7A2 and succinic semialdehyde dehydrogenase deficiency

AKR7A2 [ENSP00000235835]

Aldo-keto reductase family 7, member A2 (aflatoxin aldehyde reductase); Catalyzes the NADPH-dependent reduction of succinic semialdehyde to gamma-hydroxybutyrate. May have an important role in producing the neuromodulator gamma-hydroxybutyrate (GHB). Has broad substrate specificity. Has NADPH-dependent aldehyde reductase activity towards 2-carboxybenzaldehyde, 2- nitrobenzaldehyde and pyridine-2-aldehyde (in vitro). Can reduce 1,2-naphthoquinone and 9,10-phenanthrenequinone (in vitro). Can reduce the dialdehyde protein-binding form of aflatoxin B1 (AFB1) to the non-binding AFB1 dialcohol. May be involved in protection of liver against the toxic and carcinogenic effects of AFB1, a potent hepatocarcinogen; Aldo-keto reductases

Synonyms:  AKR7A2,  AKR7A2p,  hAKR7A2,  H3BLU7,  H7C4Q7 ...

Linkouts:  STRING  Pharos  UniProt  OMIM