HomeAboutRankingsData Sources
Β© 2026 GeneE
🧬
GeneE
25 sources retrieved Β· Most recent: April 2026 Β· Index updated 15 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
LONP1
lon peptidase 1, mitochondrial
Chromosome 19 Β· 19p13.3
NCBI Gene: 9361Ensembl: ENSG00000196365.13HGNC: HGNC:9479UniProt: P36776
209PubMed Papers
21Diseases
0Drugs
25Pathogenic Variants
FUNCTIONAL ROLE
Protease
RESEARCH IMPACT
Trending
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
mitochondrial promoter sequence-specific DNA bindingATP-dependent protein folding chaperoneresponse to hypoxia'de novo' protein foldingCODAS syndromeneurodegenerative diseasegenetic disorderpyruvate dehydrogenase E1-alpha deficiency
✦AI Summary

LONP1 is an ATP-dependent mitochondrial serine protease that maintains mitochondrial proteostasis by selectively degrading misfolded, unassembled, or oxidatively damaged polypeptides, including substrates such as StAR protein, DELE1, Twinkle helicase, and MRPL32 123. The protease regulates mitochondrial gene expression and genome integrity through site-specific, single-stranded DNA binding at mitochondrial promoters, controlling transcription and replication 4. LONP1 selectively degrades specific mitochondrial proteins including HMGCS2 in kidney disease 5, DHODH in liver fibrosis 6, and CYP11A1 in reproductive disorders 7. Dysregulation of LONP1 contributes to multiple pathologies. Decreased LONP1 expression exacerbates chr19 kidney disease by allowing HMGCS2 accumulation and mitochondrial dysfunction 5, while reduced LONP1 in muscle disuse causes impaired mitochondrial protein quality control, leading to muscle atrophy and weakness 8. Rare and de novo variants in LONP1 associate with congenital diaphragmatic hernia, where lung-specific Lonp1 deletion impairs lung development 9. LONP1 also interacts with glucocerebrosidase to maintain mitochondrial complex I integrity 10. Pharmacological LONP1 activation shows therapeutic promise in treating polycystic ovary syndrome, kidney injury, and liver fibrosis 711.

Sources cited
1
The protease regulates mitochondrial gene expression and genome integrity through site-specific, single-stranded DNA binding at mitochondrial promoters, controlling transcription and replication .
PMID: 17420247
2
LONP1 selectively degrades specific mitochondrial proteins including HMGCS2 in kidney disease , DHODH in liver fibrosis , and CYP11A1 in reproductive disorders .
PMID: 36629048
3
LONP1 selectively degrades specific mitochondrial proteins including HMGCS2 in kidney disease , DHODH in liver fibrosis , and CYP11A1 in reproductive disorders .
PMID: 40784490
4
LONP1 selectively degrades specific mitochondrial proteins including HMGCS2 in kidney disease , DHODH in liver fibrosis , and CYP11A1 in reproductive disorders .
PMID: 38870290
5
Decreased LONP1 expression exacerbates chr19 kidney disease by allowing HMGCS2 accumulation and mitochondrial dysfunction , while reduced LONP1 in muscle disuse causes impaired mitochondrial protein quality control, leading to muscle atrophy and weakness .
PMID: 35173176
6
Rare and de novo variants in LONP1 associate with congenital diaphragmatic hernia, where lung-specific Lonp1 deletion impairs lung development .
PMID: 34547244
7
LONP1 also interacts with glucocerebrosidase to maintain mitochondrial complex I integrity .
PMID: 37024507
Disease Associationsβ“˜21
CODAS syndromeOpen Targets
0.83Strong
neurodegenerative diseaseOpen Targets
0.53Moderate
genetic disorderOpen Targets
0.42Moderate
pyruvate dehydrogenase E1-alpha deficiencyOpen Targets
0.37Weak
Neurodevelopmental disorderOpen Targets
0.30Weak
poisoningOpen Targets
0.18Weak
early-onset non-syndromic cataractOpen Targets
0.12Weak
Developmental cataractOpen Targets
0.11Weak
cancerOpen Targets
0.10Suggestive
neoplasmOpen Targets
0.10Suggestive
breast cancerOpen Targets
0.08Suggestive
chronic kidney diseaseOpen Targets
0.08Suggestive
posterior cortical atrophyOpen Targets
0.08Suggestive
gliomaOpen Targets
0.08Suggestive
renal fibrosisOpen Targets
0.08Suggestive
type 2 diabetes mellitusOpen Targets
0.08Suggestive
urinary bladder carcinomaOpen Targets
0.08Suggestive
Helicobacter pylori infectious diseaseOpen Targets
0.07Suggestive
Pallister-Hall syndromeOpen Targets
0.07Suggestive
polycystic ovary syndromeOpen Targets
0.06Suggestive
CODAS syndromeUniProt
Pathogenic Variants25
NM_004793.4(LONP1):c.901C>T (p.Arg301Trp)Likely pathogenic
not provided|See cases
β˜…β˜…β˜†β˜†2023β†’ Residue 301
NM_004793.4(LONP1):c.1412dup (p.Lys472fs)Pathogenic
Fetal anomalies with a likely genetic cause
β˜…β˜†β˜†β˜†2026β†’ Residue 472
NM_004793.4(LONP1):c.1624C>T (p.Arg542Ter)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 542
NM_004793.4(LONP1):c.2175C>A (p.Tyr725Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 725
NM_004793.4(LONP1):c.1391G>A (p.Trp464Ter)Pathogenic
Inborn genetic diseases
β˜…β˜†β˜†β˜†2025β†’ Residue 464
NM_004793.4(LONP1):c.1072C>T (p.Arg358Trp)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 358
NM_004793.4(LONP1):c.2087del (p.Leu696fs)Likely pathogenic
CODAS syndrome
β˜…β˜†β˜†β˜†2024β†’ Residue 696
NM_004793.4(LONP1):c.1147dupLikely pathogenic
CODAS syndrome
β˜…β˜†β˜†β˜†2024
NM_004793.4(LONP1):c.2154+2T>CLikely pathogenic
not provided
β˜…β˜†β˜†β˜†2024
NM_004793.4(LONP1):c.2160dup (p.Arg721fs)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2023β†’ Residue 721
NM_004793.4(LONP1):c.56_77dup (p.Gly28fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2023β†’ Residue 28
NM_004793.4(LONP1):c.2154+1G>CPathogenic
LONP1-related disorder
β˜…β˜†β˜†β˜†2023
NM_004793.4(LONP1):c.917T>G (p.Leu306Trp)Likely pathogenic
LONP1-related disorder
β˜…β˜†β˜†β˜†2023β†’ Residue 306
NM_004793.4(LONP1):c.2815T>C (p.Tyr939His)Likely pathogenic
CODAS syndrome
β˜…β˜†β˜†β˜†2019β†’ Residue 939
NM_004793.4(LONP1):c.798_804del (p.Pro267fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2019β†’ Residue 267
NM_004793.4(LONP1):c.518+1G>ALikely pathogenic
not provided
β˜…β˜†β˜†β˜†2018
NM_004793.4(LONP1):c.859G>T (p.Glu287Ter)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2018β†’ Residue 287
NM_004793.4(LONP1):c.2590_2615del (p.Leu864fs)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2018β†’ Residue 864
NM_004793.4(LONP1):c.161dup (p.Trp55fs)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2017β†’ Residue 55
NM_004793.4(LONP1):c.2008G>T (p.Ala670Ser)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2016β†’ Residue 670
View on ClinVar β†—
Related Genes
GRPEL1Protein interaction100%CLPBProtein interaction97%TFAMProtein interaction93%DNAJA3Protein interaction93%GRPEL2Protein interaction93%HSPA9Protein interaction93%
Tissue Expression6 tissues
Liver
100%
Heart
77%
Brain
52%
Lung
48%
Ovary
43%
Bone Marrow
37%
Gene Interaction Network
Click a node to explore
LONP1GRPEL1CLPBTFAMDNAJA3GRPEL2HSPA9
PROTEIN STRUCTURE
Preparing viewer…
PDB2X36 Β· 2.00 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.45Moderately Constrained
pLIβ“˜
1.00Intolerant
Observed/Expected LoF0.34 [0.25–0.45]
RankingsWhere LONP1 stands among ~20K protein-coding genes
  • #2,000of 20,598
    Most Researched209 Β· top 10%
  • #1,969of 5,498
    Most Pathogenic Variants25
  • #2,487of 17,882
    Most Constrained (LOEUF)0.45 Β· top quartile
Genes detectedLONP1
Sources retrieved25 papers
Response timeβ€”
πŸ“„ Sources
25β–Ό
1
Artemisinins ameliorate polycystic ovarian syndrome by mediating LONP1-CYP11A1 interaction.
PMID: 38870290
Science Β· 2024
1.00
2
Hepatic stellate cells promote hepatocellular carcinoma development by regulating histone lactylation: Novel insights from single-cell RNA sequencing and spatial transcriptomics analyses.
PMID: 39260669
Cancer Lett Β· 2024
0.90
3
Rare and de novo variants in 827 congenital diaphragmatic hernia probands implicate LONP1 as candidate risk gene.
PMID: 34547244
Am J Hum Genet Β· 2021
0.80
4
LONP1 targets HMGCS2 to protect mitochondrial function and attenuate chronic kidney disease.
PMID: 36629048
EMBO Mol Med Β· 2023
0.70
5
Context-dependent roles of mitochondrial LONP1 in orchestrating the balance between airway progenitor versus progeny cells.
PMID: 39181129
Cell Stem Cell Β· 2024
0.64