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MIRAGE
progressive familial intrahepatic cholestasis 4

Summary
Synonym
  • PFIC4
  • TJP2 deficit
Definition
A progressive familial intrahepatic cholestasis characterized by autosomal recessive inheritance that has_material_basis_in mutation in the TJP2 gene on chromosome 9q21.
Super Class
autosomal recessive disease progressive familial intrahepatic cholestasis
Disease Ontology
DOID:0070224
ORDO
MGI genotype (from TogoID)
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
9414 TJP2 tight junction protein 2
Related Glycoprotein
Displaying 1 entry
UniProt ID Protein Name Source
Q9UDY2 Tight junction protein ZO-2
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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: August 4, 2025