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10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
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CLPB
ClpB family mitochondrial disaggregase
Chromosome 11 Β· 11q13.4
NCBI Gene: 81570Ensembl: ENSG00000162129.16HGNC: HGNC:30664UniProt: A0A140VK11
109PubMed Papers
23Diseases
0Drugs
50Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
protein bindingantiviral innate immune responsemitochondrionmitochondrial intermembrane space3-methylglutaconic aciduria, type VIIBneutropenia, severe congenital, 9, autosomal dominant3-methylglutaconic aciduria, type VIIA3-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia
✦AI Summary

CLPB is a mitochondrial intermembrane space AAA+ ATPase that functions as an ATP-dependent protein disaggregase critical for mitochondrial proteostasis. Its primary role involves maintaining solubility of key mitochondrial proteins and preventing protein aggregation under stress conditions 1. CLPB mechanistically maintains mitochondrial cristae structure through interaction with the cristae-shaping protein OPA1, and it interacts with multiple quality control factors including PARL, YME1L1, and HAX1 to coordinate intermembrane space and inner membrane protein quality control 21. Beyond protein disaggregation, CLPB participates in mitochondrial-mediated antiviral immunity by activating RIG-I signaling and promoting IFNB1 and IL-6 production, and plays a role in granulocyte differentiation. CLPB shows preferential attachment to mitochondrial RNA granules and translation components 3. Clinically, CLPB mutations cause severe mitochondrial disorders including 3-methylglutaconic aciduria types 7A and 7B, and severe congenital neutropenia 9 4. CLPB deficiency leads to stress-specific protein aggregation in the intermembrane space, impairing SPY complex function and disrupting mitochondrial quality control networks 1. Additionally, CLPB dysfunction contributes to mitochondrial cardiomyopathy through proteostasis disruption affecting cardiac energetics 5. Importantly, in acute myeloid leukemia, CLPB upregulation promotes venetoclax resistance, making CLPB inhibition a promising therapeutic strategy to resensitize resistant AML cells to apoptosis 2.

Sources cited
1
CLPB is a mitochondrial intermembrane space AAA+ disaggregase; defines stress-specific aggregation phenotypes and CLPB substrate profile; shows interaction with PARL, OPA1, HAX1, HTRA2, and SPY complex components
PMID: 38270563
2
CLPB maintains mitochondrial cristae structure via OPA1 interaction; upregulated in AML; further induced upon venetoclax resistance; CLPB ablation sensitizes AML to venetoclax and promotes apoptosis through cristae remodeling
PMID: 31048321
3
CLPB preferentially attaches to mitochondrial RNA granules and translation initiation components; functions as ATP-powered disaggregase
PMID: 35954215
4
CLPB mutations identified in pediatric mitochondrial disorder patients; mutations associated with 3-methylglutaconic aciduria; CLPB among frequently recurrent genes in mitochondrial disease diagnosis
PMID: 27290639
5
CLPB mutations cause mitochondrial cardiomyopathy through disrupted mitochondrial protein homeostasis affecting cardiac energetics and ATP production
PMID: 35328774
Disease Associationsβ“˜23
3-methylglutaconic aciduria, type VIIBOpen Targets
0.84Strong
neutropenia, severe congenital, 9, autosomal dominantOpen Targets
0.79Strong
3-methylglutaconic aciduria, type VIIAOpen Targets
0.69Moderate
3-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropeniaOpen Targets
0.68Moderate
genetic disorderOpen Targets
0.49Moderate
neutropeniaOpen Targets
0.42Moderate
Decreased total neutrophil countOpen Targets
0.42Moderate
Premature ovarian insufficiencyOpen Targets
0.42Moderate
autosomal dominant severe congenital neutropeniaOpen Targets
0.37Weak
3-methylglutaconic aciduriaOpen Targets
0.34Weak
3-Methylglutaric aciduriaOpen Targets
0.34Weak
microcytic anemiaOpen Targets
0.34Weak
Myeloid maturation arrestOpen Targets
0.34Weak
ovarian dysfunctionOpen Targets
0.29Weak
respiratory system diseaseOpen Targets
0.20Weak
HypercholesterolemiaOpen Targets
0.16Weak
neutropenia, severe congenital, 2, autosomal dominantOpen Targets
0.12Weak
neurodegenerative diseaseOpen Targets
0.11Weak
alcohol drinkingOpen Targets
0.10Weak
splenic diseaseOpen Targets
0.08Suggestive
3-methylglutaconic aciduria 7AUniProt
3-methylglutaconic aciduria 7BUniProt
Neutropenia, severe congenital 9, autosomal dominantUniProt
Pathogenic Variants50
NM_001258392.3(CLPB):c.1132A>G (p.Arg378Gly)Pathogenic
3-methylglutaconic aciduria, type VIIB|not provided|Neutropenia, severe congenital, 9, autosomal dominant;3-methylglutaconic aciduria, type VIIA;3-methylglutaconic aciduria, type VIIB|Inborn genetic diseases
β˜…β˜…β˜†β˜†2025β†’ Residue 378
NM_001258392.3(CLPB):c.1159C>T (p.Arg387Ter)Pathogenic
3-methylglutaconic aciduria, type VIIB|not provided|Neutropenia, severe congenital, 9, autosomal dominant;3-methylglutaconic aciduria, type VIIA;3-methylglutaconic aciduria, type VIIB|Decreased total neutrophil count;Premature ovarian insufficiency
β˜…β˜…β˜†β˜†2025β†’ Residue 387
NM_001258392.3(CLPB):c.1066+1G>APathogenic
Inborn genetic diseases|3-methylglutaconic aciduria, type VIIB|not provided
β˜…β˜…β˜†β˜†2025
NM_001258392.3(CLPB):c.790C>T (p.Gln264Ter)Pathogenic
3-methylglutaconic aciduria, type VIIB|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 264
NM_001258392.3(CLPB):c.829C>T (p.Arg277Ter)Pathogenic
not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 277
NM_001258392.3(CLPB):c.874-2A>GLikely pathogenic
not provided|3-methylglutaconic aciduria, type VIIB
β˜…β˜…β˜†β˜†2025
NM_001258392.3(CLPB):c.873+1G>APathogenic
not provided|3-methylglutaconic aciduria, type VIIB
β˜…β˜…β˜†β˜†2025
NM_001258392.3(CLPB):c.934C>T (p.Arg312Ter)Pathogenic
3-methylglutaconic aciduria, type VIIB|not provided
β˜…β˜…β˜†β˜†2024β†’ Residue 312
NM_001258392.3(CLPB):c.455+1G>ALikely pathogenic
3-methylglutaconic aciduria, type VIIB
β˜…β˜…β˜†β˜†2024
NM_030813.6(CLPB):c.654dup (p.Gln219fs)Pathogenic
3-methylglutaconic aciduria, type VIIB|not provided
β˜…β˜…β˜†β˜†2024β†’ Residue 219
NM_001258392.3(CLPB):c.1588G>A (p.Gly530Arg)Pathogenic
3-methylglutaconic aciduria, type VIIB|not provided|Microcytic anemia;Myeloid maturation arrest;3-Methylglutaconic aciduria;3-Methylglutaric aciduria
β˜…β˜…β˜†β˜†2022β†’ Residue 530
NM_001258392.3(CLPB):c.788del (p.Leu263fs)Pathogenic
3-methylglutaconic aciduria, type VIIB
β˜…β˜†β˜†β˜†2025β†’ Residue 263
NM_001258392.3(CLPB):c.319del (p.Val107fs)Pathogenic
3-methylglutaconic aciduria, type VIIB
β˜…β˜†β˜†β˜†2025β†’ Residue 107
NM_001258392.3(CLPB):c.1492_1493dup (p.Gln499fs)Likely pathogenic
3-methylglutaconic aciduria, type VIIB
β˜…β˜†β˜†β˜†2025β†’ Residue 499
NM_001258392.3(CLPB):c.1017C>G (p.Tyr339Ter)Pathogenic
3-methylglutaconic aciduria, type VIIB
β˜…β˜†β˜†β˜†2025β†’ Residue 339
NM_001258392.3(CLPB):c.725A>G (p.Tyr242Cys)Likely pathogenic
3-methylglutaconic aciduria, type VIIB
β˜…β˜†β˜†β˜†2025β†’ Residue 242
NM_001258392.3(CLPB):c.1560+2_1560+5delLikely pathogenic
3-methylglutaconic aciduria, type VIIB
β˜…β˜†β˜†β˜†2024
NM_001258392.3(CLPB):c.543-1G>ALikely pathogenic
3-methylglutaconic aciduria, type VIIB
β˜…β˜†β˜†β˜†2024
NM_001258392.3(CLPB):c.787del (p.Leu263fs)Pathogenic
3-methylglutaconic aciduria, type VIIB
β˜…β˜†β˜†β˜†2024β†’ Residue 263
NM_001258392.3(CLPB):c.622G>T (p.Glu208Ter)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2023β†’ Residue 208
View on ClinVar β†—
Related Genes
DNAJA3Protein interaction100%TBX22Protein interaction100%HSP90AB1Protein interaction100%HSP90AA1Protein interaction100%HSPA4Protein interaction97%HSPA9Protein interaction97%
Tissue Expression6 tissues
Bone Marrow
100%
Brain
82%
Liver
75%
Heart
62%
Lung
34%
Ovary
17%
Gene Interaction Network
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CLPBDNAJA3TBX22HSP90AB1HSP90AA1HSPA4HSPA9
PROTEIN STRUCTURE
Preparing viewer…
PDB8FDS Β· 1.65 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.64LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.49 [0.37–0.64]
RankingsWhere CLPB stands among ~20K protein-coding genes
  • #4,350of 20,598
    Most Researched109 Β· top quartile
  • #1,335of 5,498
    Most Pathogenic Variants50 Β· top quartile
  • #4,610of 17,882
    Most Constrained (LOEUF)0.64
Genes detectedCLPB
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Targeting Mitochondrial Structure Sensitizes Acute Myeloid Leukemia to Venetoclax Treatment.
PMID: 31048321
Cancer Discov Β· 2019
1.00
2
The Probiotic Strain
PMID: 34205871
Nutrients Β· 2021
0.90
3
New perspective in diagnostics of mitochondrial disorders: two years' experience with whole-exome sequencing at a national paediatric centre.
PMID: 27290639
J Transl Med Β· 2016
0.80
4
The Bacterial ClpXP-ClpB Family Is Enriched with RNA-Binding Protein Complexes.
PMID: 35954215
Cells Β· 2022
0.70
5
CLPB disaggregase dysfunction impacts the functional integrity of the proteolytic SPY complex.
PMID: 38270563
J Cell Biol Β· 2024
0.60