Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 549
MIM: 600529
HGNC: 890
Ensembl: ENSG00000148090
Variants:
dbSNP: 549
ClinVar: 549
TCGA: ENSG00000148090
COSMIC: AUH
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000148090 | ENST00000303617 | Q13825 |
| ENSG00000148090 | ENST00000375731 | Q13825 |
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 24598254 | 2014 | A bifunctional protein regulates mitochondrial protein synthesis. | 11 |
| 24598254 | 2014 | A bifunctional protein regulates mitochondrial protein synthesis. | 11 |
| 21840233 | 2011 | Phenotypic heterogeneity in two siblings with 3-methylglutaconic aciduria type I caused by a novel intragenic deletion. | 4 |
| 21840233 | 2011 | Phenotypic heterogeneity in two siblings with 3-methylglutaconic aciduria type I caused by a novel intragenic deletion. | 4 |
| 20877624 | 2010 | Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. | 20 |
| 20877624 | 2010 | Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. | 20 |
| 18831052 | 2009 | AU-rich RNA-binding induces changes in the quaternary structure of AUH. | 6 |
| 18831052 | 2009 | AU-rich RNA-binding induces changes in the quaternary structure of AUH. | 6 |
| 18978678 | 2008 | Candidate gene/loci studies in cleft lip/palate and dental anomalies finds novel susceptibility genes for clefts. | 36 |
| 18978678 | 2008 | Candidate gene/loci studies in cleft lip/palate and dental anomalies finds novel susceptibility genes for clefts. | 36 |
| 16640564 | 2006 | Biochemical characterization of human 3-methylglutaconyl-CoA hydratase and its role in leucine metabolism. | 15 |
| 16640564 | 2006 | Biochemical characterization of human 3-methylglutaconyl-CoA hydratase and its role in leucine metabolism. | 15 |
| 15033206 | 2004 | 3-methylglutaconic aciduria type I in a boy with fever-associated seizures. | 7 |
| 15033206 | 2004 | 3-methylglutaconic aciduria type I in a boy with fever-associated seizures. | 7 |
| 12655555 | 2003 | Mutations in the AUH gene cause 3-methylglutaconic aciduria type I. | 16 |
Citation
Dessen P
AUH (AU RNA binding methylglutaconyl-CoA hydratase)
Atlas Genet Cytogenet Oncol Haematol. 2014-11-01
Online version: http://atlasgeneticsoncology.org/gene/60664/auh-(au-rna-binding-methylglutaconyl-coa-hydratase)
