Aliases for AUH Gene
External Ids for AUH Gene
Previous GeneCards Identifiers for AUH Gene
This gene encodes bifunctional mitochondrial protein that has both RNA-binding and hydratase activities. The encoded protein is a methylglutaconyl-CoA hydratase that catalyzes the hydration of 3-methylglutaconyl-CoA to 3-hydroxy-3-methyl-glutaryl-CoA, a critical step in the leucine degradation pathway. This protein also binds AU-rich elements (AREs) found in the 3' UTRs of rapidly decaying mRNAs including c-fos, c-myc and granulocyte/ macrophage colony stimulating factor. ARE elements are involved in directing RNA to rapid degradation and deadenylation. This protein is localizes to the mitochondrial matrix and the inner mitochondrial membrane and may be involved in mitochondrial protein synthesis. Mutations in this gene are the cause of 3-methylglutaconic aciduria, type I. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2015]
GeneCards Summary for AUH Gene
AUH (AU RNA Binding Methylglutaconyl-CoA Hydratase) is a Protein Coding gene. Diseases associated with AUH include 3-Methylglutaconic Aciduria, Type I and 3-Methylglutaconic Aciduria. Among its related pathways are Metabolism and Valine, leucine and isoleucine degradation. Gene Ontology (GO) annotations related to this gene include RNA binding and enoyl-CoA hydratase activity. An important paralog of this gene is ECHDC2.
UniProtKB/Swiss-Prot Summary for AUH Gene
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 (PubMed:29056341). The C5-dicarboxylate catabolism pathway is required to detoxify itaconate, a vitamin B12-poisoning metabolite (PubMed:29056341). Has very low enoyl-CoA hydratase activity (PubMed:7892223). Was originally identified as RNA-binding protein that binds in vitro to clustered 5'-AUUUA-3' motifs (PubMed:7892223).