CTSC wt Allele

Preferred Label : CTSC wt Allele;

NCIt synonyms : DPP1; HMS; PLS; PALS; Cathepsin C wt Allele; PDON1; JPD; DPP-I; DPPI; CPPI; JP;

NCIt definition : Human CTSC wild-type allele is located in the vicinity of 11q14.2 and is approximately 95 kb in length. This allele, which encodes dipeptidyl peptidase 1 protein, plays a role in dipeptidylpeptidase activity. Mutation of the gene is associated with Haim-Munk syndrome, Papillon-Lefevre syndrome and juvenile periodontitis 1.;

NCI Metathesaurus CUI : CL1907113;

GenBank Accession Number : AK223038;

Details

Origin ID

C200302;

OMIM relation
- Cathepsin C [OMIM gene]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 11q14.2 [NCIt concept]
gene_is_element_in_pathway
- Apoptosis Regulation Pathway [NCIt concept]
- Lysosome Assembly Pathway [NCIt concept]
gene_plays_role_in_process
- Hydrolysis [NCIt concept]
- Proteolysis [NCIt concept]
- Proteolytic Processing [NCIt concept]

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