methylglutaconyl-CoA hydratase, mitochondrial; AU-specific RNA-binding enoyl-CoA hydratase; AU-binding protein/enoyl-CoA hydratase (AUH)

Function

• catalyzes the conversion of 3-methylglutaconyl-CoA to 3-hydroxy-3-methylglutaryl-CoA.
• originally identified as RNA-binding protein, binding in vitro clustered 5'-AUUUA-3' motifs
• amino-acid degradation; L-leucine degradation;
• (S)-3- hydroxy-3-methylglutaryl-CoA from 3-isovaleryl-CoA: step 3/3

Structure

• homohexamer
• belongs to the enoyl-CoA hydratase/isomerase family

Compartment

mitochondria (putative)

Alternative splicing

named isoforms=2

Pathology

• defects in AUH are the cause of 3-methylglutaconic aciduria type 1

Laboratory

• 3-methylglutaconyl-CoA hydratase in fibroblasts

More general terms

• hydro-lyase, hydratase or dehydratase
• mitochondrial protein
• RNA-binding protein

Additional terms

• 3-methylglutaconic acid
• methylglutaconyl-CoA hydratase, mitochondrial; AU-specific RNA-binding enoyl-CoA hydratase; AU-binding protein/enoyl-CoA hydratase (AUH)

Database

• Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=549
• Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:549
• OMIM: https://mirror.omim.org/entry/250950
• OMIM: https://mirror.omim.org/entry/600529
• UniProt: http://www.uniprot.org/uniprot/Q13825.html