Application | Comment | Organism |
---|---|---|
medicine | study on the effect of N-and C-terminal trucated enzyme mimicking enzyme deficiency in X-linked ichthyosis | Homo sapiens |
Protein Variants | Comment | Organism |
---|---|---|
additional information | c-terminal truncation mutant using codons 1-559, no effects on protein synthesis and degradation, dominant negative effect on enzyme activity when coexisting with wild-type enzyme | Homo sapiens |
Q560P | no effect of mutation on enzyme synthesis and degradation, dominant negative effect on enzyme activity when coexisting with wild-type enzyme | Homo sapiens |
Organism | UniProt | Comment | Textmining |
---|---|---|---|
Homo sapiens | - |
expression in COS-1 cell | - |
Subunits | Comment | Organism |
---|---|---|
dimer | coprecipitation of mutant enzyme with FLAG-tagged enzyme | Homo sapiens |