Free for academic non-profit institutions. Other users need a Commercial license

Aliases for CTSC Gene

Aliases for CTSC Gene

  • Cathepsin C 2 3 4 5
  • Dipeptidyl Peptidase 1 2 3
  • Dipeptidyl Transferase 3 4
  • Cathepsin J 3 4
  • EC 3.4.14.1 4 61
  • DPP-I 3 4
  • CPPI 3 4
  • DPPI 3 4
  • Dipeptidyl-Peptidase I 3
  • Dipeptidyl Peptidase I 4
  • PDON1 3
  • DPP1 3
  • PALS 3
  • HMS 3
  • JPD 3
  • PLS 3
  • JP 3

External Ids for CTSC Gene

Previous HGNC Symbols for CTSC Gene

  • PLS
  • PALS

Previous GeneCards Identifiers for CTSC Gene

  • GC11M090350
  • GC11M089573
  • GC11M087714
  • GC11M087666
  • GC11M088026
  • GC11M084265

Summaries for CTSC Gene

Entrez Gene Summary for CTSC Gene

  • 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. [provided by RefSeq, Nov 2015]

GeneCards Summary for CTSC Gene

CTSC (Cathepsin C) is a Protein Coding gene. Diseases associated with CTSC include Papillon-Lefevre Syndrome and Haim-Munk Syndrome. Among its related pathways are Transport to the Golgi and subsequent modification and Innate Immune System. GO annotations related to this gene include identical protein binding and cysteine-type peptidase activity. An important paralog of this gene is TINAGL1.

UniProtKB/Swiss-Prot for CTSC Gene

  • Thiol protease. Has dipeptidylpeptidase activity. Active against a broad range of dipeptide substrates composed of both polar and hydrophobic amino acids. Proline cannot occupy the P1 position and arginine cannot occupy the P2 position of the substrate. Can act as both an exopeptidase and endopeptidase. Activates serine proteases such as elastase, cathepsin G and granzymes A and B. Can also activate neuraminidase and factor XIII.

Gene Wiki entry for CTSC Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CTSC Gene

Genomics for CTSC Gene

Regulatory Elements for CTSC Gene

Enhancers for CTSC Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH11G088300 1.4 Ensembl ENCODE dbSUPER 31.4 +35.5 35474 3.5 TBP PKNOX1 TBL1XR1 ZSCAN4 WRNIP1 BMI1 FEZF1 CBX5 RELB ETV6 CTSC GRM5-AS1 ENSG00000206690 ENSG00000255102 ENSG00000255241 GC11M088197
GH11G088334 1.4 FANTOM5 ENCODE 20.9 +0.8 798 4.4 HDGF CREB3L1 ARNT WRNIP1 ARID4B SIN3A DMAP1 ZNF2 ZNF143 ZNF207 CTSC GAPDHP70 GC11M088197
GH11G088357 1.3 Ensembl ENCODE 22.1 -20.1 -20090 1.7 HDGF PKNOX1 ATF1 FEZF1 ZNF2 KLF7 JUNB TSHZ1 ZNF488 TBX21 CTSC GC11M088362 LOC101929174
GH11G088306 1.4 Ensembl ENCODE dbSUPER 18.1 +29.9 29854 3.2 HDGF TBL1XR1 BMI1 ETS1 RELB ETV6 IKZF2 CREM JUNB GATAD2B CTSC GC11M088197
GH11G088359 1.1 Ensembl ENCODE 17.6 -21.9 -21918 0.9 HDAC1 CBX3 BMI1 CHAMP1 GATA2 CBX5 SCRT2 RELB ETV6 IKZF2 CTSC GC11M088362 LOC101929174
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around CTSC on UCSC Golden Path with GeneCards custom track

Promoters for CTSC Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000043175 687 3001 HDGF CREB3L1 ARNT WRNIP1 ARID4B SIN3A DMAP1 ZNF2 ZNF143 ZNF207

Genomic Location for CTSC Gene

Chromosome:
11
Start:
88,293,592 bp from pter
End:
88,337,787 bp from pter
Size:
44,196 bases
Orientation:
Minus strand

Genomic View for CTSC Gene

Genes around CTSC on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CTSC Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CTSC Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CTSC Gene

Proteins for CTSC Gene

  • Protein details for CTSC Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P53634-CATC_HUMAN
    Recommended name:
    Dipeptidyl peptidase 1
    Protein Accession:
    P53634
    Secondary Accessions:
    • A8K7V2
    • B5MDD5
    • Q2HIY8
    • Q53G93
    • Q71E75
    • Q71E76
    • Q7M4N9
    • Q7Z3G7
    • Q7Z5U7
    • Q8WY99
    • Q8WYA7
    • Q8WYA8

    Protein attributes for CTSC Gene

    Size:
    463 amino acids
    Molecular mass:
    51854 Da
    Cofactor:
    Name=chloride; Xref=ChEBI:CHEBI:17996;
    Quaternary structure:
    • Tetramer of heterotrimers consisting of exclusion domain, heavy- and light chains.
    SequenceCaution:
    • Sequence=CAD97897.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for CTSC Gene

    Alternative splice isoforms for CTSC Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CTSC Gene

Selected DME Specific Peptides for CTSC Gene

P53634:
  • NFVSPVRNQASCGSCY
  • GYFRIRRGTDECAIESIA
  • HNFVKAIN
  • LLGTWVFQVG
  • IYNQGFEIVLNDYKWFAFFKY
  • ETMTGWVHDVLGRN
  • HTGLRDPFNPFELTNHAVLLVGYGTDSASGMDYWIVKNSW
  • RYYSSEY
  • QTPILSPQE
  • CNEALMKLELV
  • FVKAINAIQKSWTA
  • SCGSCYSFAS
  • YVGGFYG

Post-translational modifications for CTSC Gene

  • In approximately 50% of the complexes the exclusion domain is cleaved at position 58 or 61. The two parts of the exclusion domain are held together by a disulfide bond.
  • N-glycosylated. While glycosylation at Asn-53, Asn-119 and Asn-276 is mediated by STT3A-containing complexes, glycosylation at Asn-29 is mediated STT3B-containing complexes.
  • Glycosylation at isoforms=2, 329, Asn53, isoforms=119, and Asn276
  • Modification sites at PhosphoSitePlus

Other Protein References for CTSC Gene

Antibody Products

  • R&D Systems Antibodies for CTSC (Cathepsin C/DPPI)
  • Abcam antibodies for CTSC

Protein Products

  • Abcam proteins for CTSC

Assay Products

  • Cloud-Clone Corp Assay Kits for CTSC

Domains & Families for CTSC Gene

Gene Families for CTSC Gene

Suggested Antigen Peptide Sequences for CTSC Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P53634

UniProtKB/Swiss-Prot:

CATC_HUMAN :
  • Belongs to the peptidase C1 family.
Family:
  • Belongs to the peptidase C1 family.
genes like me logo Genes that share domains with CTSC: view

Function for CTSC Gene

Molecular function for CTSC Gene

GENATLAS Biochemistry:
cathepsin C,lysosomal cysteine protease,papain superfamily,mainly expressed in lung,kidney,placenta,polynuclear leukocytes,alveolar macrophages,activated by chloride ion,potentially involved with chloride in the regulation of proleolysis in the lysosome
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
pH dependence: High activity at pH 4.5-6.8. {ECO:0000269 PubMed:1586157};
UniProtKB/Swiss-Prot CatalyticActivity:
Release of an N-terminal dipeptide, Xaa-Yaa- -Zaa-, except when Xaa is Arg or Lys, or Yaa or Zaa is Pro.
UniProtKB/Swiss-Prot EnzymeRegulation:
Strongly inhibited by the cysteine peptidase inhibitors mersalyl acid, iodoacetic acid and cystatin. Inhibited by N-ethylmaleimide, Gly-Phe-diazomethane, TLCK, TPCK and, at low pH, by dithiodipyridine. Not inhibited by the serine peptidase inhibitor PMSF, the aminopeptidase inhibitor bestatin, or metal ion chelators.
UniProtKB/Swiss-Prot Function:
Thiol protease. Has dipeptidylpeptidase activity. Active against a broad range of dipeptide substrates composed of both polar and hydrophobic amino acids. Proline cannot occupy the P1 position and arginine cannot occupy the P2 position of the substrate. Can act as both an exopeptidase and endopeptidase. Activates serine proteases such as elastase, cathepsin G and granzymes A and B. Can also activate neuraminidase and factor XIII.
UniProtKB/Swiss-Prot Induction:
Up-regulated in lymphocytes by IL2/interleukin-2.

Enzyme Numbers (IUBMB) for CTSC Gene

Gene Ontology (GO) - Molecular Function for CTSC Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004197 cysteine-type endopeptidase activity IBA --
GO:0004252 serine-type endopeptidase activity IEA --
GO:0005515 protein binding IPI 18256700
GO:0008233 peptidase activity IEA --
GO:0008234 cysteine-type peptidase activity IDA 8811434
genes like me logo Genes that share ontologies with CTSC: view
genes like me logo Genes that share phenotypes with CTSC: view

Human Phenotype Ontology for CTSC Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for CTSC Gene

MGI Knock Outs for CTSC:

Animal Model Products

  • Taconic Biosciences Mouse Models for CTSC

Inhibitory RNA Products

Clone Products

No data available for Transcription Factor Targets and HOMER Transcription for CTSC Gene

Localization for CTSC Gene

Subcellular locations from UniProtKB/Swiss-Prot for CTSC Gene

Lysosome.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CTSC gene
Compartment Confidence
extracellular 5
nucleus 5
endoplasmic reticulum 5
lysosome 5
cytoskeleton 4
plasma membrane 3
cytosol 2
golgi apparatus 2
mitochondrion 1
peroxisome 1
endosome 1

Gene Ontology (GO) - Cellular Components for CTSC Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane IEA --
GO:0005576 extracellular region TAS --
GO:0005615 extracellular space IDA 16502470
GO:0005654 nucleoplasm IDA --
GO:0005764 lysosome ISS,TAS 7665576
genes like me logo Genes that share ontologies with CTSC: view

Pathways & Interactions for CTSC Gene

genes like me logo Genes that share pathways with CTSC: view

Pathways by source for CTSC Gene

Gene Ontology (GO) - Biological Process for CTSC Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001913 T cell mediated cytotoxicity IEA --
GO:0006508 proteolysis IDA 8811434
GO:0006888 ER to Golgi vesicle-mediated transport TAS --
GO:0006915 apoptotic process IEA --
GO:0006955 immune response TAS 9092576
genes like me logo Genes that share ontologies with CTSC: view

No data available for SIGNOR curated interactions for CTSC Gene

Drugs & Compounds for CTSC Gene

(10) Drugs for CTSC Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(9) Additional Compounds for CTSC Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Chloride ion
  • Bertholite
  • Chloor
  • Chlor
  • Chlore
  • Chloride
16887-00-6
genes like me logo Genes that share compounds with CTSC: view

Transcripts for CTSC Gene

Unigene Clusters for CTSC Gene

Cathepsin C:
Representative Sequences:

Inhibitory RNA Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for CTSC Gene

ExUns: 1 ^ 2 ^ 3 ^ 4a · 4b · 4c · 4d ^ 5 ^ 6a · 6b · 6c ^ 7 ^ 8 ^ 9 ^ 10a · 10b
SP1: - - - - - - - -
SP2: - - - - - - -
SP3:
SP4: -
SP5: - -
SP6: - - - - - -
SP7: - - - - - -

Relevant External Links for CTSC Gene

GeneLoc Exon Structure for
CTSC
ECgene alternative splicing isoforms for
CTSC

Expression for CTSC Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for CTSC Gene

mRNA differential expression in normal tissues according to GTEx for CTSC Gene

This gene is overexpressed in Whole Blood (x6.1).

Protein differential expression in normal tissues from HIPED for CTSC Gene

This gene is overexpressed in Hair follicle (10.9) and NK cells (8.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for CTSC Gene



Protein tissue co-expression partners for CTSC Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of CTSC Gene:

CTSC

SOURCE GeneReport for Unigene cluster for CTSC Gene:

Hs.128065

mRNA Expression by UniProt/SwissProt for CTSC Gene:

P53634-CATC_HUMAN
Tissue specificity: Ubiquitous. Highly expressed in lung, kidney and placenta. Detected at intermediate levels in colon, small intestine, spleen and pancreas.

Evidence on tissue expression from TISSUES for CTSC Gene

  • Blood(4.8)
  • Nervous system(4.8)
  • Spleen(4.7)
  • Intestine(4.6)
  • Liver(4.5)
  • Lung(4.5)
  • Pancreas(4.4)
  • Thyroid gland(4.3)
  • Kidney(3.7)
  • Lymph node(3.2)
  • Stomach(2.7)
  • Bone marrow(2.3)
  • Heart(2.2)
  • Muscle(2.2)
  • Skin(2.2)
  • Gall bladder(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for CTSC Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • immune
  • integumentary
  • nervous
  • respiratory
  • skeleton
Organs:
Head and neck:
  • brain
  • eye
  • head
  • jaw
  • mandible
  • maxilla
  • mouth
  • neck
  • skull
  • tooth
Thorax:
  • chest wall
  • clavicle
  • rib
  • rib cage
  • scapula
  • sternum
Pelvis:
  • pelvis
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • nail
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • blood
  • blood vessel
  • hair
  • skin
  • spinal column
  • sweat gland
  • vertebrae
  • white blood cell
genes like me logo Genes that share expression patterns with CTSC: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery for CTSC Gene

Orthologs for CTSC Gene

This gene was present in the common ancestor of animals.

Orthologs for CTSC Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CTSC 34 35
  • 99.5 (n)
cow
(Bos Taurus)
Mammalia CTSC 34 35
  • 86.61 (n)
dog
(Canis familiaris)
Mammalia CTSC 34 35
  • 86.56 (n)
-- 35
  • 83 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Ctsc 34
  • 83 (n)
mouse
(Mus musculus)
Mammalia Ctsc 34 16 35
  • 82.32 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia CTSC 35
  • 75 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia -- 35
  • 69 (a)
OneToMany
-- 35
  • 55 (a)
OneToMany
chicken
(Gallus gallus)
Aves CTSC 34 35
  • 71.66 (n)
lizard
(Anolis carolinensis)
Reptilia CTSC 35
  • 70 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ctsc 34
  • 63.12 (n)
Str.7386 34
African clawed frog
(Xenopus laevis)
Amphibia ctsc-prov 34
zebrafish
(Danio rerio)
Actinopterygii ctsc 34 34 35
  • 65.29 (n)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.8253 34
worm
(Caenorhabditis elegans)
Secernentea cpz-2 35
  • 24 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea CSA.3714 35
  • 49 (a)
OneToOne
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.4069 34
Species where no ortholog for CTSC was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for CTSC Gene

ENSEMBL:
Gene Tree for CTSC (if available)
TreeFam:
Gene Tree for CTSC (if available)

Paralogs for CTSC Gene

Paralogs for CTSC Gene

genes like me logo Genes that share paralogs with CTSC: view

Variants for CTSC Gene

Sequence variations from dbSNP and Humsavar for CTSC Gene

SNP ID Clin Chr 11 pos Sequence Context AA Info Type
rs104894207 Pathogenic, Papillon-Lefevre syndrome (PLS) [MIM:245000] 88,300,532(-) AAACC(A/T)AGGTA reference, missense
rs104894208 Pathogenic, Haim-Munk syndrome (HMS) [MIM:245010], Papillon-Lefevre syndrome (PLS) [MIM:245000] 88,296,165(-) CCCTC(A/G)GGAGG reference, missense
rs104894210 Pathogenic, Papillon-Lefevre syndrome (PLS) [MIM:245000] 88,337,557(-) CACCT(C/G)GGTCT upstream-variant-2KB, reference, missense
rs104894211 Pathogenic, Papillon-Lefevre syndrome (PLS) [MIM:245000], Periodontititis, aggressive, 1 (AP1) [MIM:170650] 88,294,358(-) CCACT(A/G)TGTAG reference, missense
rs104894214 Pathogenic, Papillon-Lefevre syndrome (PLS) [MIM:245000] 88,294,497(-) AAGGC(A/G)GCTTC reference, missense

Structural Variations from Database of Genomic Variants (DGV) for CTSC Gene

Variant ID Type Subtype PubMed ID
esv3892054 CNV loss 25118596
nsv1145559 CNV deletion 24896259
nsv478403 CNV novel sequence insertion 20440878

Variation tolerance for CTSC Gene

Residual Variation Intolerance Score: 23.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.87; 67.42% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for CTSC Gene

Human Gene Mutation Database (HGMD)
CTSC
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CTSC

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CTSC Gene

Disorders for CTSC Gene

MalaCards: The human disease database

(26) MalaCards diseases for CTSC Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
papillon-lefevre syndrome
  • papillon-lefevre disease
haim-munk syndrome
  • cochin jewish disorder
periodontitis 1, juvenile
  • periodontititis, aggressive, 1
palmoplantar keratosis
  • keratosis palmaris et plantaris
keratosis
  • actinic keratosis
- elite association - COSMIC cancer census association via MalaCards
Search CTSC in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

CATC_HUMAN
  • Haim-Munk syndrome (HMS) [MIM:245010]: An autosomal recessive disorder characterized by palmoplantar keratosis, onychogryphosis and periodontitis. Additional features are pes planus, arachnodactyly, and acroosteolysis. {ECO:0000269 PubMed:10662807}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Papillon-Lefevre syndrome (PLS) [MIM:245000]: An autosomal recessive disorder characterized by palmoplantar keratosis and severe periodontitis affecting deciduous and permanent dentitions and resulting in premature tooth loss. The palmoplantar keratotic phenotype vary from mild psoriasiform scaly skin to overt hyperkeratosis. Keratosis also affects other sites such as elbows and knees. {ECO:0000269 PubMed:10581027, ECO:0000269 PubMed:10662808, ECO:0000269 PubMed:11106356, ECO:0000269 PubMed:11158173, ECO:0000269 PubMed:11180012, ECO:0000269 PubMed:11180601, ECO:0000269 PubMed:11886537, ECO:0000269 PubMed:12112662, ECO:0000269 PubMed:12809647, ECO:0000269 PubMed:14974080, ECO:0000269 PubMed:15108292, ECO:0000269 PubMed:15991336, ECO:0000269 PubMed:25799584}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Periodontititis, aggressive, 1 (AP1) [MIM:170650]: A disease characterized by severe and protracted gingival infections, generalized or localized, leading to tooth loss. Amounts of microbial deposits are generally inconsistent with the severity of periodontal tissue destruction and the progression of attachment and bone loss may be self arresting. {ECO:0000269 PubMed:10662808, ECO:0000269 PubMed:14974080}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for CTSC

Genetic Association Database (GAD)
CTSC
Human Genome Epidemiology (HuGE) Navigator
CTSC
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CTSC
genes like me logo Genes that share disorders with CTSC: view

No data available for Genatlas for CTSC Gene

Publications for CTSC Gene

  1. Human dipeptidyl-peptidase I. Gene characterization, localization, and expression. (PMID: 9092576) Rao N.V. … Hoidal J.R. (J. Biol. Chem. 1997) 2 3 4 22 64
  2. Molecular cloning and sequence analysis of human preprocathepsin C. (PMID: 7649281) Paris A. … Turk V. (FEBS Lett. 1995) 2 3 4 22 64
  3. Cathepsin C gene variants in aggressive periodontitis. (PMID: 18809751) Noack B. … Schackert H.K. (J. Dent. Res. 2008) 3 22 46 64
  4. The role of cathepsin C in Papillon-Lefevre syndrome, prepubertal periodontitis, and aggressive periodontitis. (PMID: 14974080) Hewitt C. … Thakker N.S. (Hum. Mutat. 2004) 3 4 22 64
  5. Loss-of-function mutations in cathepsin C in two families with Papillon-Lefevre syndrome are associated with deficiency of serine proteinases in PMNs. (PMID: 15108292) de Haar S.F. … Beertsen W. (Hum. Mutat. 2004) 3 4 22 64

Products for CTSC Gene

Sources for CTSC Gene

Content
Loading form....