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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
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CLPP
caseinolytic mitochondrial matrix peptidase proteolytic subunit
Chromosome 19 Β· 19p13.3
NCBI Gene: 8192Ensembl: ENSG00000125656.13HGNC: HGNC:2084UniProt: Q16740
76PubMed Papers
21Diseases
0Drugs
22Pathogenic Variants
FUNCTIONAL ROLE
Protease
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
protein catabolic processmembrane protein proteolysismitochondrionprotein bindingPerrault syndrome 3Perrault syndromePerrault syndrome 1Perrault syndrome 2
✦AI Summary

CLPP encodes the proteolytic subunit of the mitochondrial ClpXP complex, a serine-type endopeptidase essential for ATP-dependent protein degradation in the mitochondrial matrix 1. As a core component of mitochondrial protein quality control, ClpP degrades misfolded proteins and cleaves specific substrates including PINK1 2. The ClpXP complex exhibits broad housekeeping functions rather than substrate-specific degradation, maintaining mitochondrial proteostasis through selective protein removal 3. Clinically, CLPP hyperactivation represents a therapeutic vulnerability in cancer. Imipridone activators of ClpP selectively kill cancer cells by inducing excessive proteolysis of respiratory chain proteins, disrupting mitochondrial function while sparing non-malignant cells 1. This strategy shows efficacy across multiple cancer types: diffuse midline gliomas respond to imipridone-mediated ClpP activation through metabolic impairment and cell differentiation 4, while acute myeloid leukemia cells resistant to standard therapies show sensitivity to ClpP agonists combined with other mitochondrial inhibitors 5. ClpP activation also enhances ferroptosis in AML by degrading electron transport chain components 6. Conversely, CLPP loss-of-function causes Perrault syndrome, characterized by hearing loss and ovarian insufficiency, reflecting ClpP's role in mitochondrial homeostasis during oogenesis and cellular differentiation 7.

Sources cited
1
ClpP hyperactivation by imipridones selectively kills cancer cells through degradation of respiratory chain proteins without affecting non-malignant cells
PMID: 31056398
2
ClpP is involved in proteostasis, bacterial pathogenesis, and Perrault syndrome; targeting ClpP is viable for treating various diseases
PMID: 29775273
3
Mitochondrial stress activates mitonuclear response involving ATF4 and integrated stress response to maintain mitochondrial proteostasis
PMID: 28566324
4
Imipridones ONC201 and ONC206 bind ClpP and reduce diffuse midline glioma viability by impairing tumor metabolism and promoting cell differentiation
PMID: 35157764
5
ClpP protease agonists delay relapse in acute myeloid leukemia cells resistant to venetoclax and cytarabine combination therapy
PMID: 35122057
6
ClpP hyperactivation synergistically enhances ferroptosis in AML by degrading electron transport chain components
PMID: 38148395
7
CLPP mutations are linked to syndromic primary ovarian insufficiency, implicating ClpP in metabolism and meiosis functions
PMID: 34794894
Disease Associationsβ“˜21
Perrault syndrome 3Open Targets
0.77Strong
Perrault syndromeOpen Targets
0.66Moderate
Perrault syndrome 1Open Targets
0.45Moderate
Perrault syndrome 2Open Targets
0.37Weak
genetic disorderOpen Targets
0.19Weak
breast cancerOpen Targets
0.09Suggestive
cancerOpen Targets
0.09Suggestive
neoplasmOpen Targets
0.09Suggestive
Parkinson diseaseOpen Targets
0.09Suggestive
hepatocellular carcinomaOpen Targets
0.08Suggestive
ovarian cancerOpen Targets
0.08Suggestive
posterior cortical atrophyOpen Targets
0.08Suggestive
inflammatory bowel diseaseOpen Targets
0.07Suggestive
triple-negative breast cancerOpen Targets
0.07Suggestive
Alzheimer diseaseOpen Targets
0.05Suggestive
colitisOpen Targets
0.05Suggestive
ring chromosome YOpen Targets
0.05Suggestive
azoospermiaOpen Targets
0.04Suggestive
partial chromosome Y deletionOpen Targets
0.04Suggestive
46,XY partial gonadal dysgenesisOpen Targets
0.04Suggestive
Perrault syndrome 3UniProt
Pathogenic Variants22
NM_006012.4(CLPP):c.21del (p.Ala10fs)Pathogenic
not provided|Perrault syndrome 3
β˜…β˜…β˜†β˜†2025β†’ Residue 10
NM_006012.4(CLPP):c.368-2A>GPathogenic
not provided|Perrault syndrome 3
β˜…β˜…β˜†β˜†2025
NM_006012.4(CLPP):c.661G>T (p.Glu221Ter)Pathogenic
Perrault syndrome 3
β˜…β˜†β˜†β˜†2025β†’ Residue 221
NM_006012.4(CLPP):c.328del (p.Ser110fs)Pathogenic
Perrault syndrome 3
β˜…β˜†β˜†β˜†2025β†’ Residue 110
NM_006012.4(CLPP):c.400G>C (p.Asp134His)Likely pathogenic
Perrault syndrome 3
β˜…β˜†β˜†β˜†2025β†’ Residue 134
NM_006012.4(CLPP):c.383_399dup (p.Asp134fs)Pathogenic
Perrault syndrome 1
β˜…β˜†β˜†β˜†2023β†’ Residue 134
NM_006012.4(CLPP):c.661G>A (p.Glu221Lys)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2023β†’ Residue 221
NM_006012.4(CLPP):c.12_33dup (p.Val12fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2022β†’ Residue 12
NM_006012.4(CLPP):c.585_586insAT (p.Glu196fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2022β†’ Residue 196
NM_006012.4(CLPP):c.491del (p.Pro164fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2022β†’ Residue 164
NM_006012.4(CLPP):c.199-1G>CLikely pathogenic
not provided
β˜…β˜†β˜†β˜†2022
NM_006012.4(CLPP):c.262A>T (p.Met88Leu)Likely pathogenic
Perrault syndrome 3
β˜…β˜†β˜†β˜†2022β†’ Residue 88
NM_006012.4(CLPP):c.233G>C (p.Arg78Pro)Likely pathogenic
Perrault syndrome 3
β˜…β˜†β˜†β˜†2018β†’ Residue 78
NM_006012.4(CLPP):c.367+2T>CPathogenic
not provided
β˜…β˜†β˜†β˜†2017
NM_006012.4(CLPP):c.299T>C (p.Ile100Thr)Likely pathogenic
Perrault syndrome 3
β˜…β˜†β˜†β˜†β†’ Residue 100
NM_006012.4(CLPP):c.484G>A (p.Gly162Ser)Likely pathogenic
Perrault syndrome 3
β˜…β˜†β˜†β˜†β†’ Residue 162
NM_006012.2(CLPP):c.-995_270+222delLikely pathogenic
Perrault syndrome 3
β˜†β˜†β˜†β˜†2023
NM_006012.4(CLPP):c.439T>A (p.Cys147Ser)Likely pathogenic
Perrault syndrome 3
β˜†β˜†β˜†β˜†2019β†’ Residue 147
NM_006012.4(CLPP):c.624C>G (p.Ile208Met)Pathogenic
Perrault syndrome 3
β˜†β˜†β˜†β˜†2018β†’ Residue 208
NM_006012.4(CLPP):c.433A>C (p.Thr145Pro)Pathogenic
Perrault syndrome 3|Perrault syndrome
β˜†β˜†β˜†β˜†2013β†’ Residue 145
View on ClinVar β†—
Related Genes
NDUFS8Protein interaction100%NDUFS3Protein interaction100%NDUFV1Protein interaction100%MRPS11Protein interaction100%TUFMProtein interaction100%ERAL1Protein interaction100%
Tissue Expression6 tissues
Liver
100%
Lung
62%
Brain
54%
Ovary
45%
Heart
37%
Bone Marrow
25%
Gene Interaction Network
Click a node to explore
CLPPNDUFS8NDUFS3NDUFV1MRPS11TUFMERAL1
PROTEIN STRUCTURE
Preparing viewer…
PDB8HGK Β· 1.90 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.94LoF Tolerant
pLIβ“˜
0.01Tolerant
Observed/Expected LoF0.58 [0.37–0.94]
RankingsWhere CLPP stands among ~20K protein-coding genes
  • #6,240of 20,598
    Most Researched76
  • #2,102of 5,498
    Most Pathogenic Variants22
  • #8,686of 17,882
    Most Constrained (LOEUF)0.94
Genes detectedCLPP
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Mitochondrial ClpP-Mediated Proteolysis Induces Selective Cancer Cell Lethality.
PMID: 31056398
Cancer Cell Β· 2019
1.00
2
Genetics of ovarian insufficiency and defects of folliculogenesis.
PMID: 34794894
Best Pract Res Clin Endocrinol Metab Β· 2022
0.90
3
A mitochondrial unfolded protein response inhibitor suppresses prostate cancer growth in mice via HSP60.
PMID: 35653190
J Clin Invest Β· 2022
0.80
4
Imipridones affect tumor bioenergetics and promote cell lineage differentiation in diffuse midline gliomas.
PMID: 35157764
Neuro Oncol Β· 2022
0.70
5
Mitochondrial inhibitors circumvent adaptive resistance to venetoclax and cytarabine combination therapy in acute myeloid leukemia.
PMID: 35122057
Nat Cancer Β· 2021
0.60