Defective SERPING1 causes hereditary angioedema

Summary
Species
Homo sapiens
Reactome
PubChem
Click on a node on the pathway to see its details. Glycoproteins are marked with a glycoprotein icon in their name.
Non-secretable SERPING1 variantsFXIIaHAE type 2-causing SERPING1 variantsPlasma kallikrein
ProteinProtein familyDNARNAComplexChemical/MoleculePhenotype/StimulusNucleusMitochondriaEndosomeGolgi apparatusLysosomeMembraneUp-regulatesDown-regulatesPhysical interactionUnknownDirectIndirectBindingHighlight
Displaying all 3 entries
UniProt ID Protein Name Gene Symbol Pathway Viewer
P00748 Coagulation factor XII
  • F12
view
P03952 Plasma kallikrein
  • KLK3
  • KLKB1
view
P05155 Plasma protease C1 inhibitor
  • C1IN
  • C1NH
  • SERPING1
view
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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: February 17, 2025