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GeneE
10 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.
PREPL
prolyl endopeptidase like
Chromosome 2 Β· 2p21
NCBI Gene: 9581Ensembl: ENSG00000138078.17HGNC: HGNC:30228UniProt: Q4J6C6
49PubMed Papers
22Diseases
0Drugs
62Pathogenic Variants
FUNCTIONAL ROLE
Protease
RESEARCH IMPACT
Variant-Rich
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
regulation of synaptic vesicle exocytosismitochondrionpeptidase activitytrans-Golgi networkmyasthenic syndrome, congenital, 22cystinuriahypotonia-cystinuria syndromeHypotonia - cystinuria syndrome
✦AI Summary

PREPL (prolyl endopeptidase like) is a serine peptidase with both enzymatic and non-enzymatic cellular functions. As an enzyme, PREPL exhibits peptidase activity with unclear precise substrate specificity, though it does not cleave peptides after arginine or lysine residues 1. Beyond its hydrolytic function, PREPL plays critical roles in cellular trafficking by regulating trans-Golgi network morphology and sorting through modulation of AP-1 complex membrane binding 1. The protein may also contribute to synaptic vesicle exocytosis regulation 1. PREPL is clinically significant as mutations cause congenital myasthenic syndrome-22 (CMS22), a rare neuromuscular disorder characterized by impaired neuromuscular signal transmission 2. Interestingly, CMS22 can result from both loss-of-function variants and missense mutations that preserve enzymatic activity but disrupt protein-protein interactions, indicating that PREPL's non-catalytic functions are essential for normal neuromuscular function 1. PREPL has also been associated with hypotonia-cystinuria syndrome and primary ovarian insufficiency 3. Recent studies suggest PREPL may regulate mitochondrial function, with implications for cardiovascular diseases like atherosclerosis 4. The multifunctional nature of PREPL highlights its importance in both metabolic and structural cellular processes.

Sources cited
1
PREPL has both enzymatic peptidase activity and non-enzymatic functions including protein-protein interactions, and missense variants can cause CMS22 without affecting hydrolytic activity
PMID: 39078710
2
PREPL mutations cause congenital myasthenic syndrome-22 (CMS22), characterized by impaired neuromuscular signal transmission
PMID: 36835142
3
PREPL is associated with primary ovarian insufficiency and has been linked to syndromic POI
PMID: 34794894
4
PREPL may regulate mitochondrial function and play a role in atherosclerosis
PMID: 40494461
⚠Limited data available β€” This gene has 4 indexed publications. Summary and analysis may be incomplete.
Disease Associationsβ“˜22
myasthenic syndrome, congenital, 22Open Targets
0.57Moderate
cystinuriaOpen Targets
0.56Moderate
hypotonia-cystinuria syndromeOpen Targets
0.55Moderate
Hypotonia - cystinuria syndromeOpen Targets
0.51Moderate
cystine urolithiasisOpen Targets
0.42Moderate
Premature ovarian insufficiencyOpen Targets
0.42Moderate
Congenital myasthenic syndromesOpen Targets
0.37Weak
Atypical hypotonia - cystinuria syndromeOpen Targets
0.37Weak
esophageal varicesOpen Targets
0.27Weak
Intellectual disabilityOpen Targets
0.27Weak
HypercholesterolemiaOpen Targets
0.24Weak
genetic disorderOpen Targets
0.19Weak
obesityOpen Targets
0.18Weak
cholelithiasisOpen Targets
0.18Weak
ovarian dysfunctionOpen Targets
0.15Weak
preeclampsiaOpen Targets
0.14Weak
gallstonesOpen Targets
0.13Weak
kidney diseaseOpen Targets
0.12Weak
CholecystitisOpen Targets
0.08Suggestive
Abruptio PlacentaeOpen Targets
0.08Suggestive
Hypotonia-cystinuria syndromeUniProt
Myasthenic syndrome, congenital, 22UniProt
Pathogenic Variants62
NM_001171613.2(PREPL):c.40C>T (p.Gln14Ter)Pathogenic
Myasthenic syndrome, congenital, 22|not provided|PREPL-related disorder
β˜…β˜…β˜†β˜†2026β†’ Residue 14
NM_001171613.2(PREPL):c.616C>T (p.Arg206Ter)Pathogenic
Myasthenic syndrome, congenital, 22|not provided
β˜…β˜…β˜†β˜†2026β†’ Residue 206
NM_001171613.2(PREPL):c.1753+1G>TPathogenic
Myasthenic syndrome, congenital, 22
β˜…β˜…β˜†β˜†2026
NM_001171613.2(PREPL):c.167del (p.Leu56fs)Pathogenic
Myasthenic syndrome, congenital, 22|PREPL-related disorder|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 56
NM_001171613.2(PREPL):c.1262+1G>APathogenic
Myasthenic syndrome, congenital, 22|not provided
β˜…β˜…β˜†β˜†2025
NM_001171613.2(PREPL):c.-42delPathogenic
Myasthenic syndrome, congenital, 22|See cases
β˜…β˜…β˜†β˜†2025
NM_001171613.2(PREPL):c.1263-1G>CPathogenic
not provided|Myasthenic syndrome, congenital, 22
β˜…β˜…β˜†β˜†2025
NM_001171613.2(PREPL):c.1366C>T (p.Gln456Ter)Pathogenic
Myasthenic syndrome, congenital, 22
β˜…β˜…β˜†β˜†2025β†’ Residue 456
NM_001171613.2(PREPL):c.1015_1018del (p.Phe339fs)Pathogenic
Myasthenic syndrome, congenital, 22
β˜…β˜…β˜†β˜†2022β†’ Residue 339
NM_001171613.2(PREPL):c.-49+1734C>TPathogenic
Myasthenic syndrome, congenital, 22
β˜…β˜…β˜†β˜†2022
NM_001171613.2(PREPL):c.1729G>T (p.Glu577Ter)Pathogenic
Myasthenic syndrome, congenital, 22
β˜…β˜…β˜†β˜†2022β†’ Residue 577
NM_001171613.2(PREPL):c.981dup (p.Tyr328fs)Pathogenic
not provided|Myasthenic syndrome, congenital, 22
β˜…β˜…β˜†β˜†2018β†’ Residue 328
NM_001171613.2(PREPL):c.1131dup (p.Glu378Ter)Likely pathogenic
Myasthenic syndrome, congenital, 22
β˜…β˜†β˜†β˜†2026β†’ Residue 378
NM_001171613.2(PREPL):c.1827G>T (p.Lys609Asn)Likely pathogenic
Myasthenic syndrome, congenital, 22|Melanoma
β˜…β˜†β˜†β˜†2026β†’ Residue 609
NM_001171613.2(PREPL):c.75del (p.Val26fs)Pathogenic
Myasthenic syndrome, congenital, 22
β˜…β˜†β˜†β˜†2026β†’ Residue 26
NM_001171613.2(PREPL):c.140_141dup (p.Ala48fs)Pathogenic
Myasthenic syndrome, congenital, 22
β˜…β˜†β˜†β˜†2025β†’ Residue 48
NM_001171613.2(PREPL):c.993C>G (p.Tyr331Ter)Pathogenic
Myasthenic syndrome, congenital, 22
β˜…β˜†β˜†β˜†2025β†’ Residue 331
NM_001171613.2(PREPL):c.1414G>T (p.Gly472Ter)Pathogenic
Myasthenic syndrome, congenital, 22
β˜…β˜†β˜†β˜†2025β†’ Residue 472
NM_001171613.2(PREPL):c.1263-2A>CLikely pathogenic
Myasthenic syndrome, congenital, 22
β˜…β˜†β˜†β˜†2025
NM_001171613.2(PREPL):c.1131_1132del (p.Glu378fs)Pathogenic
Myasthenic syndrome, congenital, 22
β˜…β˜†β˜†β˜†2025β†’ Residue 378
View on ClinVar β†—
Related Genes
PPM1BProtein interaction97%SLC3A1Protein interaction97%CAMKMTProtein interaction94%ARFRP1Shared pathway33%MYO9ACo-mentioned in literature30%PGA4Shared pathway25%
Tissue Expression6 tissues
Brain
100%
Heart
47%
Ovary
21%
Liver
10%
Lung
9%
Bone Marrow
5%
Gene Interaction Network
Click a node to explore
PREPLPPM1BSLC3A1CAMKMTARFRP1MYO9APGA4
PROTEIN STRUCTURE
Preparing viewer…
PDB7OBM Β· 3.10 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
1.25LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF1.02 [0.84–1.25]
RankingsWhere PREPL stands among ~20K protein-coding genes
  • #9,001of 20,598
    Most Researched49
  • #1,147of 5,498
    Most Pathogenic Variants62 Β· top quartile
  • #13,153of 17,882
    Most Constrained (LOEUF)1.25
Genes detectedPREPL
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Clinical and Pathologic Features of Congenital Myasthenic Syndromes Caused by 35 Genes-A Comprehensive Review.
PMID: 36835142
Int J Mol Sci Β· 2023
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 20-year Clinical and Genetic Neuromuscular Cohort Analysis in Lebanon: An International Effort.
PMID: 34602496
J Neuromuscul Dis Β· 2022
0.80
4
Autozygome and high throughput confirmation of disease genes candidacy.
PMID: 30237576
Genet Med Β· 2019
0.70
5
Prolyl endopeptidases.
PMID: 17160352
Cell Mol Life Sci Β· 2007
0.60