AUH Antibody – Mouse Monoclonal

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]

AUH: Catalyzes the conversion of 3-methylglutaconyl-CoA to 3- hydroxy-3-methylglutaryl-CoA. Has very low enoyl-CoA hydratase activity. Was originally identified as RNA-binding protein that binds in vitro to clustered 5'-AUUUA-3' motifs. Defects in AUH are the cause of 3-methylglutaconic aciduria type 1 (MGA1). MGA1 is an inborn error of leucine metabolism. It leads to an autosomal recessive syndrome with variable clinical phenotype, ranging from delayed speech development to severe psychomotor retardation, coma, failure to thrive, metabolic acidosis and dystonia. MGA1 can be distinguished from other forms of MGA by the pattern of metabolite excretion: 3- methylglutaconic acid levels are higher than those detected in other forms, whereas methylglutaric acid levels are usually only slightly elevated, and there is a high level of 3- hydroxyisovaleric acid excretion (not present in other MGA forms). Belongs to the enoyl-CoA hydratase/isomerase family. 2 isoforms of the human protein are produced by alternative splicing.

Protein type: Mitochondrial; Lyase; Amino Acid Metabolism - valine, leucine and isoleucine degradation; EC 4.2.1.18; RNA-binding

Chromosomal Location of Human Ortholog: 9q22.31

Cellular Component: mitochondrion; mitochondrial matrix

Molecular Function: methylglutaconyl-CoA hydratase activity; mRNA 3'-UTR binding; enoyl-CoA hydratase activity

Biological Process: leucine catabolic process; branched chain family amino acid catabolic process

Disease: 3-methylglutaconic Aciduria, Type I