Protein Variants | Comment | Organism |
---|---|---|
R272P | missense mutation found in patients affected with classical features of Papillon-Lefevre syndrome | Homo sapiens |
Organism | UniProt | Comment | Textmining |
---|---|---|---|
Homo sapiens | - |
- |
- |
Source Tissue | Comment | Organism | Textmining |
---|---|---|---|
peripheral blood | - |
Homo sapiens | - |
Synonyms | Comment | Organism |
---|---|---|
cathepsin C | - |
Homo sapiens |
CTSC | - |
Homo sapiens |
General Information | Comment | Organism |
---|---|---|
malfunction | mutations in the cathepsin C gene result in an autosomal recessive disorder, Papillon-Lefevre syndrome | Homo sapiens |