Cathepsin C

Alternative Names

  • CTSC
  • Dipeptidyl Peptidase I
  • DPPI
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OMIM Number

602365

NCBI Gene ID

1075

Uniprot ID

P53634

Length

44,196 bases

No. of Exons

9

No. of isoforms

3

Protein Name

Dipeptidyl Peptidase 1

Molecular Mass

51854 Da

Amino Acid Count

463

Genomic Location

chr11:88,293,592-88,337,787

Gene Map Locus
11q14.1-q14.3

Description

The cathepsin C gene (CTSC) encodes a cysteine lysosomal protease belonging to the papain family, called dipeptidyl peptidase I. The enzymatic function of this protease is the removal of amino terminal dipeptides of the protein substrate. Mutations in the CTSC gene have been implicated in Papillon Lefevre syndrome (PLS), an autosomal recessive disorder characterised by palmoplantar hyperkeratosis and early onset periodontitis.

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_001814.4:c.815G>CLebanon; Saudi ArabiaNC_000011.10:g.88296207C>GLikely Pathogenic, PathogenicLikely Pathogenic, PathogenicPapillon-Lefevre SyndromeNG_007952.1:g.46567G>C; NM_001814.4:c.815G>C; NP_001805.3:p.Arg272Pro587777534548504
NM_001814.4:c.899G>ASaudi Arabiachr11:88294499Likely PathogenicPapillon-Lefevre SyndromeNG_007952.1:g.48275G>A; NM_001814.4:c.899G>A; NP_001805.3:p.Gly300Asp
NM_001814.6:c.1040A>GJordanchr11:88294358PathogenicPathogenicPeriodontitis, Aggressive, 1NG_007952.1:g.48416A>G; NM_001814.6:c.1040A>G; NP_001805.4:p.Tyr347Cys1048942117301
NM_001814.6:c.319-1G>AEgypt; Jordanchr11:88312555Likely PathogenicPapillon-Lefevre SyndromeNG_007952.1:g.30219G>A; NM_001814.6:c.319-1G>A
NM_001814.6:c.890-1G>AJordanchr11:88294509PathogenicPathogenicPapillon-Lefevre SyndromeNG_007952.1:g.48265G>A; NM_001814.6:c.890-1G>A5877766547290

Other Reports

Lebanon

In a patient with PLS, Abou Chedid et al. (2019) found loss of amplification of exons 1 and 2 of the CTSC gene. They suggested that the patient  harbored a homozygous deletion of the 5′UTR region and exons 1 and 2. 

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