Application | Comment | Organism |
---|---|---|
medicine | isovaleric acidaemia, caused by isovaleryl coenzyme A dehydrogenase deficiency, is an autosomal-recessive disorder of L-leucine catabolism | Homo sapiens |
Protein Variants | Comment | Organism |
---|---|---|
G375A | c.1124G>A, potentially disease-associated allele | Homo sapiens |
IVS234+85insTT | potentially disease-associated allele | Homo sapiens |
Organism | UniProt | Comment | Textmining |
---|---|---|---|
Homo sapiens | P26440 | - |
- |
Source Tissue | Comment | Organism | Textmining |
---|---|---|---|
blood | - |
Homo sapiens | - |
fibroblast | - |
Homo sapiens | - |
leukocyte | - |
Homo sapiens | - |
Synonyms | Comment | Organism |
---|---|---|
isovaleric-CoA dehydrogenase | - |
Homo sapiens |
IVD | - |
Homo sapiens |