Application | Comment | Organism |
---|---|---|
medicine | assay for enzymic activity in urinary samples to diagnose for Papillon-Lefevre syndrome PLS, which is caused by mutations in both alleles of the cathepsin C. The absence of active CatC and its proform in the urine is a strong and reliable indicator for PLS and useful in the early diagnosis of PLS. In contrast, 100% of urine samples from control subjects of any age and gender contained measurable amounts of active CatC. Nonsense, frameshift and missense mutations all result in a total absence of CatC or CatC fragments in the urine of PLS patients | Homo sapiens |
Organism | UniProt | Comment | Textmining |
---|---|---|---|
Homo sapiens | P53634 | - |
- |
Synonyms | Comment | Organism |
---|---|---|
CATC | - |
Homo sapiens |