HomeAboutRankingsData Sources
© 2026 GeneE
🧬
GeneE
10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
ⓘGeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
PZP
PZP alpha-2-macroglobulin like
Chromosome 12 · 12p13.31
NCBI Gene: 5858Ensembl: ENSG00000126838.11HGNC: HGNC:9750UniProt: P20742
51PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
blood microparticleextracellular matrixextracellular exosomeGO:0005615myopiarefractive errorAbnormality of refractionAganglionic megacolon
✦AI Summary

PZP (pregnancy zone protein) is a multifunctional alpha-2-macroglobulin family protease inhibitor that plays critical roles in pregnancy maintenance and disease pathogenesis. PZP functions as a broad-spectrum protease inhibitor through a unique 'trapping' mechanism, where protease cleavage of its bait region induces conformational changes that entrap the enzyme while maintaining activity against small substrates 1. During pregnancy, PZP accumulates at the maternal-fetal interface and contributes to immune tolerance and successful placental development 12. The protein shows dramatic upregulation during the second trimester and may regulate proinflammatory protease activity through preserved cleavage sites 1. Genetic studies identify PZP as a risk factor for preeclampsia, with variants associated with placental development, proteostasis maintenance, and cardiovascular regulation 34. PZP dysfunction is implicated in multiple pathological conditions: hypermethylation and reduced expression occur in hepatocellular carcinoma, correlating with increased tumor cell proliferation and invasion 5; altered expression patterns are observed in chr12 kidney disease and aging 6; and decreased levels contribute to UV-induced photoaging through MMP-1 regulation and DNA damage 7. These findings establish PZP as a key regulator of extracellular proteostasis with broad clinical significance in pregnancy disorders, cancer, aging, and skin health.

Sources cited
1
PZP variants are associated with preeclampsia risk and placental development
PMID: 37285119
2
PZP functions as protease inhibitor through trapping mechanism and accumulates at maternal-fetal interface
PMID: 32198464
3
PZP is elevated in pregnancy and functions in immune tolerance and proteostasis
PMID: 27554634
4
PZP hypermethylation and reduced expression in hepatocellular carcinoma correlates with tumor progression
PMID: 33471436
5
PZP identified as causal protein in preeclampsia development through genetic analysis
PMID: 39119725
6
PZP expression correlates with aging and chronic kidney disease progression
PMID: 40058366
7
PZP protects against UV-induced photoaging by regulating MMP-1 and DNA damage
PMID: 39425900
Disease Associationsⓘ20
myopiaOpen Targets
0.23Weak
refractive errorOpen Targets
0.19Weak
Abnormality of refractionOpen Targets
0.18Weak
Aganglionic megacolonOpen Targets
0.12Weak
hypertension, pregnancy-inducedOpen Targets
0.11Weak
primary angle closure glaucomaOpen Targets
0.10Suggestive
hepatocellular carcinomaOpen Targets
0.10Suggestive
upper respiratory tract disorderOpen Targets
0.08Suggestive
musculoskeletal system diseaseOpen Targets
0.08Suggestive
adolescent idiopathic scoliosisOpen Targets
0.08Suggestive
colorectal cancerOpen Targets
0.04Suggestive
pediatric hepatocellular carcinomaOpen Targets
0.04Suggestive
alpha 1-antitrypsin deficiencyOpen Targets
0.04Suggestive
Alpha-1-antitrypsin deficiencyOpen Targets
0.04Suggestive
hepatocellular adenomaOpen Targets
0.03Suggestive
neonatal hemochromatosisOpen Targets
0.03Suggestive
African iron overloadOpen Targets
0.03Suggestive
congenital bile acid synthesis defect 3Open Targets
0.03Suggestive
Congenital bile acid synthesis defect type 3Open Targets
0.03Suggestive
Alzheimer diseaseOpen Targets
0.03Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
PSG1Shared pathway100%PSG4Shared pathway100%PSG6Shared pathway100%PSG7Shared pathway100%RLN1Shared pathway100%CTRB2Protein interaction84%
Tissue Expression6 tissues
Liver
100%
Bone Marrow
5%
Lung
4%
Heart
3%
Brain
1%
Ovary
1%
Gene Interaction Network
Click a node to explore
PZPPSG1PSG4PSG6PSG7RLN1CTRB2
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt P20742
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.93LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.80 [0.69–0.93]
RankingsWhere PZP stands among ~20K protein-coding genes
  • #8,718of 20,598
    Most Researched51
  • #8,601of 17,882
    Most Constrained (LOEUF)0.93
Genes detectedPZP
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Genetic Risk Factors Associated With Preeclampsia and Hypertensive Disorders of Pregnancy.
PMID: 37285119
JAMA Cardiol · 2023
1.00
2
Human PZP and common marmoset A2ML1 as pregnancy related proteins.
PMID: 32198464
Sci Rep · 2020
0.90
3
PZP and PAI-2: Structurally-diverse, functionally similar pregnancy proteins?
PMID: 27554634
Int J Biochem Cell Biol · 2016
0.80
4
Hypermethylation of the PZP gene is associated with hepatocellular carcinoma cell proliferation, invasion and migration.
PMID: 33471436
FEBS Open Bio · 2021
0.70
5
Proteome- and Transcriptome-Wide Genetic Analysis Identifies Biological Pathways and Candidate Drug Targets for Preeclampsia.
PMID: 39119725
Circ Genom Precis Med · 2024
0.60