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GeneE
25 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
LRPPRC
leucine rich pentatricopeptide repeat containing
Chromosome 2 Β· 2p21
NCBI Gene: 10128Ensembl: ENSG00000138095.21HGNC: HGNC:15714UniProt: E5KNY5
307PubMed Papers
21Diseases
0Drugs
333Pathogenic Variants
FUNCTIONAL ROLE
Transcription FactorTransporter
RESEARCH IMPACT
TrendingVariant-Rich
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
actin filament bindingmitochondrionprotein bindingubiquitin protein ligase bindingcongenital lactic acidosis, Saguenay-Lac-Saint-Jean typemitochondrial diseaseneurodegenerative diseaseLeigh syndrome
✦AI Summary

LRPPRC (leucine-rich pentatricopeptide repeat containing) is a multifunctional RNA-binding protein with dual roles in nuclear and mitochondrial gene expression 1. In the nucleus, LRPPRC promotes mRNA export by binding simultaneously to EIF4E and the 4ESE motif, facilitating assembly of the nuclear export complex and trafficking through XPO1/CRM1 to the cytoplasm 1. In mitochondria, LRPPRC functions as a holdase that maintains mt-mRNA secondary structures essential for efficient translation 2. It regulates mitochondrial gene expression by stabilizing mRNAs encoding cytochrome c oxidase subunits and cooperates with PPARGC1A in metabolic regulation 1. LRPPRC suppresses basal autophagy and mitophagy by sustaining BCL2 levels, maintaining mitochondrial potential 1. Additionally, LRPPRC functions as an m6A reader that stabilizes LDHA mRNA to promote glycolysis in cancer cells 3. Disease associations include mitochondrial complex IV deficiency and Leigh syndrome French-Canadian 1. LRPPRC dysregulation contributes to cancer progression, viral infections, and neurodegenerative processes 1. Notably, LRPPRC promotes CDK4/6 inhibitor resistance in lung cancer through a feedback loop with CDK6 4, while viral NS1 proteins antagonize LRPPRC's autophagy inhibition to enhance viral replication 5.

Sources cited
1
LRPPRC is a multifunctional protein regulating nuclear mRNA export, mitochondrial translation, autophagy suppression, and disease associations with Leigh syndrome and tumors
PMID: 31178748
2
LRPPRC functions as a holdase maintaining mitochondrial mRNA folding necessary for efficient translation
PMID: 39024447
3
LRPPRC acts as an m6A reader that stabilizes LDHA mRNA to promote glycolysis in triple-negative breast cancer
PMID: 38372449
4
LRPPRC promotes CDK4/6 inhibitor resistance in lung cancer through a feedback loop with CDK6
PMID: 37452037
5
Viral A/(H1N1) pdm09 NS1 antagonizes LRPPRC's inhibitory effect on autophagy to enhance viral replication
PMID: 36300799
Disease Associationsβ“˜21
congenital lactic acidosis, Saguenay-Lac-Saint-Jean typeOpen Targets
0.82Strong
mitochondrial diseaseOpen Targets
0.60Moderate
neurodegenerative diseaseOpen Targets
0.54Moderate
Leigh syndromeOpen Targets
0.42Moderate
genetic disorderOpen Targets
0.42Moderate
Abnormality of the skeletal systemOpen Targets
0.39Weak
risk-taking behaviourOpen Targets
0.33Weak
intelligenceOpen Targets
0.31Weak
insomniaOpen Targets
0.31Weak
substance abuseOpen Targets
0.30Weak
attention deficit hyperactivity disorderOpen Targets
0.30Weak
smoking initiationOpen Targets
0.30Weak
placental retentionOpen Targets
0.28Weak
cholelithiasisOpen Targets
0.28Weak
gallstonesOpen Targets
0.28Weak
HypercholesterolemiaOpen Targets
0.28Weak
breast cancerOpen Targets
0.24Weak
smoking behaviorOpen Targets
0.24Weak
refractive errorOpen Targets
0.23Weak
ganglion or cyst of synovium/tendon/bursaOpen Targets
0.23Weak
Mitochondrial complex IV deficiency, nuclear type 5UniProt
Pathogenic Variants333
NM_133259.4(LRPPRC):c.3566dup (p.Asn1190fs)Likely pathogenic
not provided|Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
β˜…β˜…β˜†β˜†2026β†’ Residue 1190
NM_133259.4(LRPPRC):c.3286del (p.His1096fs)Pathogenic
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type|not provided
β˜…β˜…β˜†β˜†2026β†’ Residue 1096
NM_133259.4(LRPPRC):c.2084del (p.Met695fs)Pathogenic
not provided|Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
β˜…β˜…β˜†β˜†2026β†’ Residue 695
NM_133259.4(LRPPRC):c.1730_1735+1delLikely pathogenic
not provided|Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
β˜…β˜…β˜†β˜†2026
NM_133259.4(LRPPRC):c.1723C>T (p.Arg575Ter)Pathogenic
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 575
NM_133259.4(LRPPRC):c.2755C>T (p.Arg919Ter)Pathogenic
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 919
NM_133259.4(LRPPRC):c.254G>A (p.Trp85Ter)Pathogenic
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 85
NM_133259.4(LRPPRC):c.3364+2T>CLikely pathogenic
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
β˜…β˜…β˜†β˜†2025
NM_133259.4(LRPPRC):c.601C>T (p.Gln201Ter)Pathogenic
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 201
NM_133259.4(LRPPRC):c.2167C>T (p.Arg723Ter)Pathogenic
not provided|Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
β˜…β˜…β˜†β˜†2025β†’ Residue 723
NM_133259.4(LRPPRC):c.1474C>T (p.Arg492Ter)Pathogenic
Inborn genetic diseases|not provided|Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
β˜…β˜…β˜†β˜†2025β†’ Residue 492
NM_133259.4(LRPPRC):c.3147dup (p.Gly1050fs)Pathogenic
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 1050
NM_133259.4(LRPPRC):c.2441_2444del (p.Thr814fs)Pathogenic
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 814
NM_133259.4(LRPPRC):c.1582+7A>GLikely pathogenic
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type|not provided
β˜…β˜…β˜†β˜†2025
NM_133259.4(LRPPRC):c.1061C>T (p.Ala354Val)Pathogenic
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type|not provided|LRPPRC-related disorder
β˜…β˜…β˜†β˜†2025β†’ Residue 354
NM_133259.4(LRPPRC):c.205C>T (p.Gln69Ter)Likely pathogenic
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
β˜…β˜…β˜†β˜†2025β†’ Residue 69
NM_133259.4(LRPPRC):c.1677+1G>TLikely pathogenic
not provided|Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
β˜…β˜…β˜†β˜†2025
NM_133259.4(LRPPRC):c.3710-1delLikely pathogenic
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
β˜…β˜…β˜†β˜†2025
NM_133259.4(LRPPRC):c.123del (p.Ala42fs)Pathogenic
not provided|Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
β˜…β˜…β˜†β˜†2025β†’ Residue 42
NM_133259.4(LRPPRC):c.3130C>T (p.Arg1044Ter)Likely pathogenic
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
β˜…β˜…β˜†β˜†2025β†’ Residue 1044
View on ClinVar β†—
Related Genes
MAP1SProtein interaction98%XPO1Protein interaction94%ZC3H13Protein interaction93%COX6B1Protein interaction93%METTL14Protein interaction93%ALKBH5Protein interaction92%
Tissue Expression6 tissues
Heart
100%
Brain
76%
Bone Marrow
51%
Liver
44%
Ovary
44%
Lung
32%
Gene Interaction Network
Click a node to explore
LRPPRCMAP1SXPO1ZC3H13COX6B1METTL14ALKBH5
PROTEIN STRUCTURE
Preparing viewer…
PDB8ANY Β· 2.85 Γ… Β· EM
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.81LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.64 [0.51–0.81]
RankingsWhere LRPPRC stands among ~20K protein-coding genes
  • #1,123of 20,598
    Most Researched307 Β· top 10%
  • #179of 5,498
    Most Pathogenic Variants333 Β· top 5%
  • #6,760of 17,882
    Most Constrained (LOEUF)0.81
Genes detectedLRPPRC
Sources retrieved25 papers
Response timeβ€”
πŸ“„ Sources
25β–Ό
1
Autophagy and apoptosis dysfunction in neurodegenerative disorders.
PMID: 24211851
Prog Neurobiol Β· 2014
1.00
2
The pan-cancer proteome atlas, a mass spectrometry-based landscape for discovering tumor biology, biomarkers, and therapeutic targets.
PMID: 40446800
Cancer Cell Β· 2025
0.90
3
A kinetic dichotomy between mitochondrial and nuclear gene expression processes.
PMID: 38503286
Mol Cell Β· 2024
0.80
4
LRPPRC and SLIRP synergize to maintain sufficient and orderly mammalian mitochondrial translation.
PMID: 39087558
Nucleic Acids Res Β· 2024
0.76
5
LRPPRC: A Multifunctional Protein Involved in Energy Metabolism and Human Disease.
PMID: 31178748
Front Physiol Β· 2019
0.70