Gene: LOC101929174

Alternate names for this Gene:

Gene Summary:

Gene is located in Chromosome:

Location in Chromosome :

Description of this Gene:

Type of Gene:

Gene: CTSC

Alternate names for this Gene: CPPI|DPP-I|DPP1|DPPI|HMS|JP|JPD|PALS|PDON1|PLS

Gene Summary: This gene encodes a member of the peptidase C1 family and lysosomal cysteine proteinase that appears to be a central coordinator for activation of many serine proteinases in cells of the immune system. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed to generate heavy and light chains that form a disulfide-linked dimer. A portion of the propeptide acts as an intramolecular chaperone for the folding and stabilization of the mature enzyme. This enzyme requires chloride ions for activity and can degrade glucagon. Defects in the encoded protein have been shown to be a cause of Papillon-Lefevre syndrome, an autosomal recessive disorder characterized by palmoplantar keratosis and periodontitis.

Gene is located in Chromosome: 11

Location in Chromosome : 11q14.2

Description of this Gene: cathepsin C

Type of Gene: protein-coding

rs104894210 in LOC101929174;CTSC gene and Papillon-Lefevre Disease PMID 11158173 2001 Evidence of a founder effect for four cathepsin C gene mutations in Papillon-Lefèvre syndrome patients.

PMID 15991336 2005 Gene symbol: CTSC. Disease: Papillon-Lefevre syndrome.

PMID 10662808 2000 Localisation of a gene for prepubertal periodontitis to chromosome 11q14 and identification of a cathepsin C gene mutation.

PMID 25799584 2015 Proxy molecular diagnosis from whole-exome sequencing reveals Papillon-Lefevre syndrome caused by a missense mutation in CTSC.

PMID 11180012 2001 Papillon-Lefèvre syndrome: mutations and polymorphisms in the cathepsin C gene.

PMID 11886537 2001 Novel point mutations, deletions, and polymorphisms in the cathepsin C gene in nine families from Europe and North Africa with Papillon-Lefèvre syndrome.

PMID 11180601 2001 Cathepsin C gene: First compound heterozygous patient with Papillon-Lefèvre syndrome and a novel symptomless mutation.

PMID 10581027 1999 Loss-of-function mutations in the cathepsin C gene result in periodontal disease and palmoplantar keratosis.

PMID 12112662 2002 Biochemical and mutational analyses of the cathepsin c gene (CTSC) in three North American families with Papillon Lefèvre syndrome.

PMID 15108292 2004 Loss-of-function mutations in cathepsin C in two families with Papillon-Lefèvre syndrome are associated with deficiency of serine proteinases in PMNs.

PMID 14974080 2004 The role of cathepsin C in Papillon-Lefèvre syndrome, prepubertal periodontitis, and aggressive periodontitis.

PMID 12809647 2003 A genetic study of cathepsin C gene in two families with Papillon-Lefèvre syndrome.

PMID 11106356 2000 Identification of cathepsin C mutations in ethnically diverse papillon-Lefèvre syndrome patients.