Cloned (Comment) | Organism |
---|---|
gene AUH, genotyping | Homo sapiens |
Organism | UniProt | Comment | Textmining |
---|---|---|---|
Homo sapiens | - |
gene AUH | - |
Source Tissue | Comment | Organism | Textmining |
---|---|---|---|
fibroblast | skin | Homo sapiens | - |
Synonyms | Comment | Organism |
---|---|---|
3-methylglutaconyl-CoA hydratase | - |
Homo sapiens |
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 |