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Gene

CTSC

cathepsin C

Summary

Cytogenetic location
11q14.2
Coordinates
Chromosome 11: 88,293,592–88,337,736 (GRCh38)
Exons
7 exons across 44.1 kb
Protein
463 amino acids
Also known as
DPP1
Previous symbols
PLS, PALS
MANE Select transcript
ENST00000227266.10NM_001814.6
Locus type
gene with protein product
  • Very high
  • Confident
  • Low
  • Very low

Reference genomeGRCh38

Positions on gene and variant pages follow this choice, in this browser.

Curated report relevant to this gene

  • Hereditary Palmoplantar Keratodermas and Pachyonychia Congenita

    • Hereditary palmoplantar keratoderma

      Inherited thickening of the palms and soles, including pachyonychia congenita, mal de Meleda, Nagashima-type and Bothnian keratodermas, keratitis-ichthyosis-deafness syndrome, and the CTSC-related Papillon-Lefèvre and Haim-Munk syndromes.

      • 3 GenCC submitters rate it definitive or strong
      What knowing changes

      Diagnosis guides foot care and pain management; for CTSC-related forms early dental treatment protects the teeth, and GJB2-related forms warrant a hearing check.

How CTSC is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 11, with a bracket where CTSC sits. CTSC and 2 genes near it on chromosome 11, from 87,815,664 to 88,815,663.Chromosome 1111q14.2p15.5p15.4p15.3p15.2p15.1p14.3p14.2p14.1p13p12p11.2p11.12p11.11q11q12.1q12.2q12.3q13.1q13.2q13.3q13.4q13.5q14.1q14.2q14.3q21q22.1q22.2q22.3q23.1q23.2q23.3q24.1q24.2q24.3q2588 Mb88.2 Mb88.4 Mb88.6 Mb88.8 MbRAB38: 88,106,130–88,175,512, reverse strandRAB38CTSC: 88,293,592–88,337,736, reverse strandCTSCGRM5: 88,504,576–89,065,990, reverse strandGRM5Diagram of CTSC: 7 exons on the reverse strand of chromosome 11Exon 7: 17 known disease-causing sitesExon 6: 8 known disease-causing sitesExon 5: 11 known disease-causing sitesExon 4: 13 known disease-causing sitesExon 3: 8 known disease-causing sitesExon 2: 5 known disease-causing sitesExon 1: 8 known disease-causing sitesExon 7: 88,293,592–88,294,508, 917 basesExon 6: 88,296,133–88,296,264, 132 basesExon 5: 88,300,530–88,300,645, 116 basesExon 4: 88,309,163–88,309,318, 156 basesExon 3: 88,312,388–88,312,554, 167 basesExon 2: 88,334,937–88,335,082, 146 basesExon 1: 88,337,501–88,337,736, 236 bases76543215′3′

Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.

Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).

Nearby genes from Ensembl release 116, on GRCh38.

Exons make up 1.9 kb of the gene's 44.1 kb; 1,392 of those bases code for the protein.

How a genome test reads CTSC

79

positions in CTSC where ClinVar classes a change as pathogenic or likely pathogenic

None of them falls in a region short reads find hard.

A whole genome covers all 44.1 kb of CTSC, introns included, not only the 1.9 kb of exons.

Where this comes from

  • HGNC: the gene's symbol, name, other symbols and location.
  • MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
  • GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
  • The ACMG secondary findings list, SF v3.2.
  • ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
  • The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
  • Data release 2026.10.16-c6eea6bf.

Cite this page

APA

Dante Labs. (n.d.). CTSC gene: cathepsin C. Retrieved 16 October 2026, from https://dantelabs.com/genes/ctsc

Vancouver

Dante Labs. CTSC gene: cathepsin C [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/ctsc

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