DISEASES

Disease-gene associations mined from literature

Literature associating AUH and tracheomalacia

AUH [ENSP00000364883]

Methylglutaconyl-CoA hydratase, mitochondrial; Catalyzes the conversion of 3-methylglutaconyl-CoA to 3- hydroxy-3-methylglutaryl-CoA (PubMed:11738050, PubMed:12434311, PubMed:12655555). 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 . ECO:0000269|PubMed:12655555, ECO:0000269|PubMed:7892223,

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

Linkouts:  STRING  Pharos  UniProt  OMIM