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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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CLPX
caseinolytic mitochondrial matrix peptidase chaperone subunit X
Chromosome 15 · 15q22.31
NCBI Gene: 10845Ensembl: ENSG00000166855.10HGNC: HGNC:2088UniProt: O76031
128PubMed Papers
21Diseases
0Drugs
1Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
ATP-dependent peptidase activityprotein bindingATP metabolic processmitochondrial matrixprotoporphyria, erythropoietic, 2neurodegenerative diseaseVitiligotype 1 diabetes mellitus
✦AI Summary

CLPX (caseinolytic mitochondrial matrix peptidase chaperone subunit X) is an ATP-dependent AAA+ unfoldase that functions as the catalytic subunit of the ClpXP protease complex 1. As part of ClpXP, CLPX recognizes protein substrates, unfolds them using ATP hydrolysis energy, and translocates them to the CLPP peptidase subunit for degradation 2. CLPX exhibits substrate specificity through variable contacts with substrate degrons and can process diverse protein topologies including multi-chain substrates 2. Beyond proteolysis, CLPX functions as a chaperone in heme biosynthesis by activating δ-aminolevulinate synthase (ALAS), the rate-limiting enzyme in heme synthesis, through pyridoxal phosphate cofactor incorporation 3. CLPX also regulates mitochondrial nucleoid organization by modulating mitochondrial transcription factor A (TFAM) activity 1. Clinically, CLPX mutations cause erythropoietic protoporphyria type 2 (EPP2), characterized by protoporphyrin IX accumulation 3. Dominant mutations in CLPX's ATPase domain (p.Gly298Asp) inactivate ATP hydrolysis, reducing enzyme activity and increasing ALAS protein stability, leading to excessive heme intermediate accumulation and photosensitivity 3. CLPX dysfunction also impairs heavy metal homeostasis 1, underscoring its role in maintaining mitochondrial proteostasis and metabolic regulation.

Sources cited
1
CLPX is an AAA+ unfoldase acting in matrix condensates; regulates TFAM and impairs heavy metal homeostasis when mutated
PMID: 38927630
2
ClpX hexamer unfolds substrates through specific degron contacts and can translocate diverse substrate topologies
PMID: 39516482
3
CLPX mutation p.Gly298Asp causes EPP2 by inactivating ATPase activity, increasing ALAS stability and protoporphyrin IX accumulation
PMID: 28874591
⚠Limited data available — This gene has 3 indexed publications. Summary and analysis may be incomplete.
Disease Associationsⓘ21
protoporphyria, erythropoietic, 2Open Targets
0.36Weak
neurodegenerative diseaseOpen Targets
0.23Weak
VitiligoOpen Targets
0.20Weak
type 1 diabetes mellitusOpen Targets
0.13Weak
infectionOpen Targets
0.07Suggestive
Nijmegen breakage syndromeOpen Targets
0.03Suggestive
anemiaOpen Targets
0.03Suggestive
neoplasmOpen Targets
0.02Suggestive
cryptococcosisOpen Targets
0.02Suggestive
erythropoietic protoporphyriaOpen Targets
0.01Suggestive
cancerOpen Targets
0.01Suggestive
allergic rhinitisOpen Targets
0.01Suggestive
autosomal dominant cerebellar ataxiaOpen Targets
0.01Suggestive
prostate cancerOpen Targets
0.01Suggestive
cerebellar ataxiaOpen Targets
0.01Suggestive
Fibrolamellar CarcinomaOpen Targets
0.01Suggestive
Cowden syndrome 1Open Targets
0.01Suggestive
glioblastoma multiformeOpen Targets
0.01Suggestive
COVID-19–associated multisystem inflammatory syndrome in adultsOpen Targets
0.00Suggestive
porphyriaOpen Targets
0.00Suggestive
Protoporphyria, erythropoietic, 2UniProt
Pathogenic Variants1
NM_006660.5(CLPX):c.893G>A (p.Gly298Asp)Likely pathogenic
Protoporphyria, erythropoietic, 2
★☆☆☆2018→ Residue 298
View on ClinVar ↗
Related Genes
GRPEL1Protein interaction100%TBX22Protein interaction99%SP100Protein interaction97%CLPBProtein interaction97%HSPD1Protein interaction83%HSPE1Protein interaction83%
Tissue Expression6 tissues
Liver
100%
Heart
76%
Brain
53%
Ovary
37%
Lung
35%
Bone Marrow
34%
Gene Interaction Network
Click a node to explore
CLPXGRPEL1TBX22SP100CLPBHSPD1HSPE1
PROTEIN STRUCTURE
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AlphaFoldAI-predicted · UniProt O76031
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.59Moderately Constrained
pLIⓘ
0.49Tolerant
Observed/Expected LoF0.40 [0.27–0.59]
RankingsWhere CLPX stands among ~20K protein-coding genes
  • #3,647of 20,598
    Most Researched128 · top quartile
  • #4,814of 5,498
    Most Pathogenic Variants1
  • #3,942of 17,882
    Most Constrained (LOEUF)0.59 · top quartile
Genes detectedCLPX
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Targeted DNA integration in human cells without double-strand breaks using CRISPR-associated transposases.
PMID: 36991112
Nat Biotechnol · 2024
1.00
2
Knockout Mouse Studies Show That Mitochondrial CLPP Peptidase and CLPX Unfoldase Act in Matrix Condensates near IMM, as Fast Stress Response in Protein Assemblies for Transcript Processing, Translation, and Heme Production.
PMID: 38927630
Genes (Basel) · 2024
0.90
3
EZH2i EPZ-6438 and HDACi vorinostat synergize with ONC201/TIC10 to activate integrated stress response, DR5, reduce H3K27 methylation, ClpX and promote apoptosis of multiple tumor types including DIPG.
PMID: 34246076
Neoplasia · 2021
0.80
4
The role of ClpX in erythropoietic protoporphyria.
PMID: 30057992
Hematol Transfus Cell Ther · 2018
0.70
5
Mutation in human
PMID: 28874591
Proc Natl Acad Sci U S A · 2017
0.60