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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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CTSH
cathepsin H
Chromosome 15 · 15q25.1
NCBI Gene: 1512Ensembl: ENSG00000103811.18HGNC: HGNC:2535UniProt: E9PKT6
87PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Protease
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein destabilizationcysteine-type peptidase activitymembrane protein proteolysissurfactant homeostasistype 1 diabetes mellitusskin cancerbasal cell carcinomanarcolepsy-cataplexy syndrome
✦AI Summary

CTSH (cathepsin H) is a lysosomal cysteine protease with critical roles in protein degradation and cellular homeostasis. The enzyme functions as both an aminopeptidase and endopeptidase, contributing to lysosomal protein catabolism and various cellular processes 1. CTSH exhibits significant disease relevance across multiple conditions. In Alzheimer's disease, CTSH represents a genetic risk factor where increased expression correlates with disease susceptibility 23. The protective variant rs2289702 reduces CTSH expression and enhances microglial phagocytosis of amyloid-β peptides 2. Mechanistically, CTSH is regulated by DNA methylation, with proinflammatory cytokines inducing hypermethylation in intron 1, leading to transcriptional downregulation 1. In type 1 diabetes, genetic variants affect methylation variability, influencing environmental sensitivity and beta-cell function 1. CTSH also plays roles in cancer biology, where it correlates with chemoresistance in bladder cancer through semi-squamatization mechanisms 4, and genetic variants influence lung cancer risk in surfactant-related pathways 5. Clinical significance extends to its involvement in microglial phagocytosis regulation and potential as a therapeutic target across neurodegenerative and oncological conditions.

Sources cited
1
CTSH functions as lysosomal protease and is regulated by DNA methylation in response to proinflammatory cytokines
PMID: 33992646
2
CTSH rs2289702 variant provides protective effect against Alzheimer's disease by reducing expression and enhancing microglial amyloid-β phagocytosis
PMID: 36739351
3
CTSH brain protein abundance is causally associated with Alzheimer's disease risk
PMID: 34381170
4
CTSH correlates with chemoresistance and semi-squamatization in bladder cancer
PMID: 36099882
5
CTSH genetic variants influence lung cancer risk through surfactant-related pathways
PMID: 37471639
Disease Associationsⓘ20
type 1 diabetes mellitusOpen Targets
0.55Moderate
skin cancerOpen Targets
0.49Moderate
basal cell carcinomaOpen Targets
0.49Moderate
narcolepsy-cataplexy syndromeOpen Targets
0.45Moderate
multiple sclerosisOpen Targets
0.43Moderate
Alzheimer diseaseOpen Targets
0.37Weak
Parkinson diseaseOpen Targets
0.36Weak
type 2 diabetes mellitusOpen Targets
0.36Weak
hearing lossOpen Targets
0.36Weak
Sensorineural hearing impairmentOpen Targets
0.36Weak
lysosomal storage diseaseOpen Targets
0.36Weak
neurodegenerative diseaseOpen Targets
0.36Weak
autoimmune diseaseOpen Targets
0.36Weak
cardiovascular diseaseOpen Targets
0.30Weak
coronary artery diseaseOpen Targets
0.29Weak
myocardial infarctionOpen Targets
0.29Weak
angina pectorisOpen Targets
0.29Weak
Myocardial IschemiaOpen Targets
0.29Weak
coronary artery bypassOpen Targets
0.28Weak
coronary atherosclerosisOpen Targets
0.27Weak
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
CSTAProtein interaction96%BCL2Protein interaction91%BCL2L1Protein interaction91%BIDProtein interaction91%CTSDProtein interaction85%LGMNProtein interaction81%
Tissue Expression6 tissues
Lung
100%
Liver
31%
Ovary
24%
Bone Marrow
21%
Heart
17%
Brain
11%
Gene Interaction Network
Click a node to explore
CTSHCSTABCL2BCL2L1BIDCTSDLGMN
PROTEIN STRUCTURE
Preparing viewer…
PDB6CZS · 1.66 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
1.27LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.98 [0.77–1.27]
RankingsWhere CTSH stands among ~20K protein-coding genes
  • #5,469of 20,598
    Most Researched87
  • #13,367of 17,882
    Most Constrained (LOEUF)1.27
Genes detectedCTSH
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Acquired semi-squamatization during chemotherapy suggests differentiation as a therapeutic strategy for bladder cancer.
PMID: 36099882
Cancer Cell · 2022
1.00
2
Microglial phagocytosis in Alzheimer disease.
PMID: 41315858
Nat Rev Neurol · 2026
0.90
3
Genetic and environmental factors regulate the type 1 diabetes gene CTSH via differential DNA methylation.
PMID: 33992646
J Biol Chem · 2021
0.80
4
Functional genomics identify causal variant underlying the protective CTSH locus for Alzheimer's disease.
PMID: 36739351
Neuropsychopharmacology · 2023
0.70
5
Identification of novel drug targets for Alzheimer's disease by integrating genetics and proteomes from brain and blood.
PMID: 34381170
Mol Psychiatry · 2021
0.60