Disease-gene associations mined from literature

Literature associating AUH and expressive language disorder

AUH [ENSP00000364883]

Methylglutaconyl-CoA hydratase, mitochondrial; Catalyzes the conversion of 3-methylglutaconyl-CoA to 3- hydroxy-3-methylglutaryl-CoA. Also has itaconyl-CoA hydratase activity by converting itaconyl-CoA into citramalyl-CoA in the C5- dicarboxylate catabolism pathway. The C5- dicarboxylate catabolism pathway is required to detoxify itaconate, a vitamin B12-poisoning metabolite. Has very low enoyl-CoA hydratase activity. Was originally identified as RNA-binding protein that binds in vitro to clustered 5'-AUUUA-3' motifs.

Synonyms:  AUH,  Q13825,  Q13825p,  hQ13825,  1HZD ...

Linkouts:  STRING  Pharos  UniProt  OMIM