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Literature summary for 3.4.14.1 extracted from

  • Kurban, M.; Wajid, M.; Shimomura, Y.; Bahhady, R.; Kibbi, A.G.; Christiano, A.M.
    Evidence for a founder mutation in the cathepsin C gene in three families with Papillon-Lefevre syndrome (2009), Dermatology, 219, 289-294.
    View publication on PubMedView publication on EuropePMC
Search for more literature for 3.4.14.1

Protein Variants

Protein Variants Comment Organism
R272P missense mutation found in patients affected with classical features of Papillon-Lefevre syndrome Homo sapiens

Organism

Organism UniProt Comment Textmining
Homo sapiens
-
-
-

Source Tissue

Source Tissue Comment Organism Textmining
peripheral blood
-
 Homo sapiens
-

Synonyms

Synonyms Comment Organism
cathepsin C
-
 Homo sapiens
CTSC
-
 Homo sapiens

General Information

General Information Comment Organism
malfunction mutations in the cathepsin C gene result in an autosomal recessive disorder, Papillon-Lefevre syndrome Homo sapiens