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Literature summary for 4.2.1.18 extracted from
- Phenotypic heterogeneity in two siblings with 3-methylglutaconic aciduria type I caused by a novel intragenic deletion (2011), Mol. Genet. Metab., 104, 410-413.
Cloned(Commentary)
| Cloned (Comment) | Organism |
|---|---|
| gene AUH, genotyping | Homo sapiens |
Organism
| Organism | UniProt | Comment | Textmining |
|---|---|---|---|
| Homo sapiens | - |
gene AUH | - |
Source Tissue
| Source Tissue | Comment | Organism | Textmining |
|---|---|---|---|
| fibroblast | skin | Homo sapiens | - |
Synonyms
| Synonyms | Comment | Organism |
|---|---|---|
| 3-methylglutaconyl-CoA hydratase | - |
Homo sapiens |
General Information
| General Information | Comment | Organism |
|---|---|---|
| malfunction | enzyme deficiency, due to homozygous deletion of exons 1-3 within the AUH gene, leads to 3-methylglutaconic aciduria type I with phenotypic heterogeneity, e.g. learning disability, attention deficit-hyperactivity and early onset subclinical leukoencephalopathy or severe expressive speech delay and delay in speech sound development with normal cognitive functions, overview | Homo sapiens |
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Release 2023.1 (January 2023)
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