Gene: AUH

Alternate names for this Gene: -

Gene Summary: 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.

Gene is located in Chromosome: 9

Location in Chromosome : 9q22.31

Description of this Gene: AU RNA binding methylglutaconyl-CoA hydratase

Type of Gene: protein-coding

rs121434636 in AUH gene and 3-@METHYLGLUTACONIC ACIDURIA, TYPE I PMID 12434311 2002 Mutation analysis of AUH in two patients revealed a nonsense mutation (R197X) and a splice-site mutation (IVS8-1G-->A), demonstrating that mutations in AUH cause 3-methylglutaconic aciduria type I.

PMID 12655555 2003 Mutations in the AUH gene cause 3-methylglutaconic aciduria type I.

rs56049491 in AUH gene and Bilirubin measurement PMID 29403010 2018 Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases.

rs201272561 in AUH gene and Blood basophil count (lab test) PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

rs748318386 in AUH gene and Dysmorphic features PMID 16354225 2005 A molecular lesion in a Japanese patient with severe phenotype of 3-methylglutaconic aciduria type I.

PMID 20855850 2010 3-Methylglutaconic aciduria type I redefined: a syndrome with late-onset leukoencephalopathy.

PMID 12655555 2003 Mutations in the AUH gene cause 3-methylglutaconic aciduria type I.

PMID 15033206 2004 3-methylglutaconic aciduria type I in a boy with fever-associated seizures.

rs201272561 in AUH gene and Eosinophil count procedure PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.