Information on CTSC
Basic details
Alt. symbols: PLS | PALS | DPP1
Approved name: cathepsin C
Alt. names: dipeptidyl peptidase 1
Location: 11q14.2: 88265069 - 88359684 (-)
Gene type: protein_coding, 31 transcripts.
Scores: LoFtool: 0.165000 | pLI: 0.00081687 | LOEUF: 1.035
Normal function
Dysfunction and disease
Haim-Munk syndrome [MIM:245010] | Papillon-Lefevre syndrome [MIM:245000] | Periodontitis 1, juvenile [MIM:170650] [Load More]
[Gene NOT reviewed yet]
Associated conditions
| Acronym | Condition's_name | MOI | Mode_of_action |
OMIM_ID | No.cases |
|---|---|---|---|---|---|
HMS |
Haim-Munk syndrome | AR |
245010 |
0 (0 fams) | |
| PALS |
Papillon-Lefevre syndrome | AR |
245000 |
0 (0 fams) | |
| PDJ1 |
Periodontitis 1, juvenile | AR |
170650 |
0 (0 fams) |
Please mind that full curation (inclusion of all published patients) of this gene has not started yet. Please contact us if you want to volunteer.
Transcripts of CTSC
| Name | ENSEMBL_ID | LRG_ID | CCDS_ID | MANE | Transcript.type | Exons | Canonical | CDS_length | REFSEQ_ID |
|---|---|---|---|---|---|---|---|---|---|
| 206 | ENST00000529974.2 | CCDS44693 | protein_coding | 4 | No | 778 | NM_001114173 | ||
| 201 | ENST00000227266.10 | 1 | CCDS8282 | Select | protein_coding | 7 | Yes | 1870 | NM_001814 |
| 203 | ENST00000524463.6 | CCDS31654 | protein_coding | 4 | No | 6144 | NM_148170 |
Published variants
Found 0 variants
| Var.name | Exon/Intron | cDNA_pos. | CDS_change | Prot.change | Var.type | Var.class. | Patients |
|---|
Please mind that full curation (inclusion of all published variants) of this gene has not started yet. Please contact us if you want to volunteer.
Diagnostic pitfalls & paradigms
Considerations to take into account when analyzing this gene
| Year | Paradigm ⓘ | PMID | Notes |
|---|---|---|---|
| - | Regions of Homology | - | |
| - | Cryptic splicing | - | Unreported or not recorded in our DB. |
| - | Uniparental disomy | - | Unreported or not recorded in our DB. |
| - | Mosaicism | - | Unreported or not recorded in our DB. |
| - | Incomplete penetrance | - | Unreported or not recorded in our DB. |
| - | Di-/oligo-genic inheritance | - | Unreported or not recorded in our DB. |
| - | Somatic reversion | - | Unreported or not recorded in our DB. |
References linked to variants in CTSC
| ID | Year | Title | Journal | PMID | Variants |
|---|