AUH Gene: AU RNA Binding Methylglutaconyl-CoA Hydratase
Comprehensive gene card for AUH, encoding a bifunctional RNA-binding and metabolic enzyme involved in leucine catabolism and associated with 3-methylglutaconic aciduria type 1.
Gene Information Card
| Symbol | AUH |
|---|---|
| Full Name | AU RNA binding methylglutaconyl-CoA hydratase |
| Gene Type | Protein coding |
| Chromosomal Location | 9q22.31 |
| NCBI Gene ID | 549 ncbi.nlm.nih.gov/gene/549 |
| Ensembl ID | ENSG00000107175 |
| UniProt ID | Q13825 |
| OMIM ID | 600529 |
| HGNC ID | 890 |
| Aliases | AUH, AU-specific RNA-binding protein, methylglutaconyl-CoA hydratase |
Description
The AUH gene encodes a bifunctional mitochondrial protein that acts as both an RNA-binding protein, preferentially binding to AU-rich elements in the 3' UTR of mRNAs, and as a methylglutaconyl-CoA hydratase involved in leucine catabolism. Mutations in AUH cause 3-methylglutaconic aciduria type 1 (MGA type 1), an autosomal recessive disorder characterized by elevated urinary excretion of 3-methylglutaconic acid and 3-hydroxyisovaleric acid, often presenting with neurological symptoms.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| 3-Methylglutaconic aciduria type 1 | Loss-of-function mutations in AUH impair methylglutaconyl-CoA hydratase activity, disrupting leucine catabolism and leading to accumulation of 3-methylglutaconic acid. | ClinVar, OMIM |
| Encephalopathy, progressive, with brain atrophy and spasticity | Biallelic AUH mutations cause severe neurological deterioration, likely due to mitochondrial dysfunction and toxic metabolite accumulation. | OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | Medium |
| Kidney | 8.3 | Medium |
| Heart | 6.1 | Low |
| Brain | 4.7 | Low |
| Skeletal muscle | 3.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 15.2 | Hepatocellular carcinoma cell line |
| HEK 293 | 9.8 | Embryonic kidney cells |
| HeLa | 7.4 | Cervical adenocarcinoma cells |
| K-562 | 5.1 | Chronic myelogenous leukemia cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.424C>T (p.Arg142*) | Nonsense | Rare | Premature stop codon; loss of hydratase and RNA-binding function |
| c.590G>A (p.Arg197Gln) | Missense | Rare | Reduced enzymatic activity; associated with MGA type 1 |
| c.1A>G (p.Met1?) | Start loss | Rare | Loss of translation initiation; complete loss of protein |
Mutation functional classification
Loss of Function (LOF)
Most AUH mutations are loss-of-function, leading to reduced or absent methylglutaconyl-CoA hydratase activity and causing 3-methylglutaconic aciduria type 1.
Gain of Function (GOF)
No gain-of-function mutations have been reported for AUH.
Dominant Negative (DN)
No dominant-negative mutations have been described for AUH.
View complete mutation data：
Gene Ontology (GO)
| • RNA binding (GO:0003723) | • enoyl-CoA hydratase activity (GO:0004300) |
| • mitochondrion (GO:0005739) | • leucine catabolic process (GO:0006552) |
| • identical protein binding (GO:0042802) |
Pathways
• Leucine degradation (Reactome: R-HSA-70895)
• Valine
• leucine and isoleucine degradation (KEGG: hsa00280)
Protein Summary
The AUH protein is a 339-amino acid mitochondrial enzyme that catalyzes the hydration of 3-methylglutaconyl-CoA to 3-hydroxy-3-methylglutaryl-CoA in the leucine degradation pathway. It also binds AU-rich elements in mRNA, potentially regulating mRNA stability. The protein forms a homodimer and contains an enoyl-CoA hydratase domain. Defects in AUH lead to 3-methylglutaconic aciduria type 1.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| AUH Knockout HEK293 Cell Line | EDJ-KQ2744 | Human | 549 | Details Get a Quote |
| AUH Knockout A-549 Cell Line | EDJ-KQ25013 | Human | 549 | Details Get a Quote |
| AUH Knockout HCT 116 Cell Line | EDJ-KQ25015 | Human | 549 | Details Get a Quote |
| AUH Knockout HeLa Cell Line | EDJ-KQ25016 | Human | 549 | Details Get a Quote |
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