Cloned (Comment) | Organism |
---|---|
gene ASCAD, expression analysis of wild-type and mutant R107C enzymes in A-172 cells and transfected Mus musculus GP+E86 cells, phenotypes, overview | Homo sapiens |
Protein Variants | Comment | Organism |
---|---|---|
R107C | naturally occuring mutation, development of a cell model system, stably expressing either the SCAD wild-type protein or the misfolding SCAD variant protein, R107C, genotype C319T. The model system is used for investigation of SCAD with respect to expression, degree of misfolding, and enzymatic SCAD activity | Homo sapiens |
Localization | Comment | Organism | GeneOntology No. | Textmining |
---|---|---|---|---|
mitochondrion | - |
Homo sapiens | 5739 | - |
Organism | UniProt | Comment | Textmining |
---|---|---|---|
Homo sapiens | - |
gene ACADS | - |
Source Tissue | Comment | Organism | Textmining |
---|---|---|---|
astrocyte | - |
Homo sapiens | - |
Substrates | Comment Substrates | Organism | Products | Comment (Products) | Rev. | Reac. |
---|---|---|---|---|---|---|
butanoyl-CoA + FAD | - |
Homo sapiens | trans-2,3-dehydrobutanoyl-CoA + FADH2 | - |
? |
Subunits | Comment | Organism |
---|---|---|
tetramer | - |
Homo sapiens |
Synonyms | Comment | Organism |
---|---|---|
SCAD | - |
Homo sapiens |
Temperature Optimum [°C] | Temperature Optimum Maximum [°C] | Comment | Organism |
---|---|---|---|
37 | - |
assay at | Homo sapiens |
pH Optimum Minimum | pH Optimum Maximum | Comment | Organism |
---|---|---|---|
8 | - |
assay at | Homo sapiens |
Cofactor | Comment | Organism | Structure |
---|---|---|---|
FAD | - |
Homo sapiens |
General Information | Comment | Organism |
---|---|---|
malfunction | expression of the R107C mutant variant SCAD protein gives rise to inactive misfolded protein species, eliciting a mild toxic response manifested though a decreased proliferation rate and oxidative stress, as shown by an increased demand for the mitochondrial antioxidant SOD2, occurance of increased markers of apoptotic activity in the mutant protein expressing cells. Development of a cell model system, stably expressing either the SCAD wild-type protein or the misfolding SCAD variant protein, R107C, genotype C319T. The model system is used for investigation of SCAD with respect to expression, degree of misfolding, and enzymatic SCAD activity, overview | Homo sapiens |