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7 Possible Causes for Mutation in the Tight Junction Protein 2 Gene

  • Progressive Familial Intrahepatic Cholestasis 4

    PFIC4 PFIC4 is a recently described genetic mutation involving the TJP2 gene that encodes for the tight junction protein 2[ 3 ].[wjgnet.com] Recently, mutations in a gene important for the formation of tight junctions was also reported that leads to progressive intrahepatic cholestasis[ 3 ].[wjgnet.com] These mutant proteins result in the impairment of bile flow through the liver leading to severe intrahepatic cholestasis and progressive chronic liver disease[ 2 ].[wjgnet.com]

  • Autosomal Dominant Deafness 56

    […] human genes that are mutated encode for a wide variety of proteins connexins (gap junction proteins; esp.[d.umn.edu] Usher, Jervell & Lange-Nielsen, Pendred, Branchio-oto-renal, Waardenberg, Stickler, Treacher Collins) - 30% nonsyndromic autosomal dominant ( DFNA ) - 12% mitochondrial - 2%[d.umn.edu] Cx26 which is only expressed in cochlea) tight junctions developmental regulators or transcription factors ion transporter proteins potassium channel proteins myosins (MYO7A[d.umn.edu]

  • Progressive Familial Intrahepatic Cholestasis

    It results from mutations in the TJP2 gene, which is responsible for the production of the tight junction protein 2, also known as zona occludens 2 (ZO-2).[symptoma.com] PFIC4 PFIC4 is a recently described genetic mutation involving the TJP2 gene that encodes for the tight junction protein 2[ 3 ].[wjgnet.com] Recently, mutations in a gene important for the formation of tight junctions was also reported that leads to progressive intrahepatic cholestasis[ 3 ].[wjgnet.com]

  • Intrahepatic Cholestasis

    Patients with a confirmed ABCB11 or tight junction protein 2 gene mutation (n 7) had a minimally detectable THBA proportion (0.23-2.99% of total BAs).[ncbi.nlm.nih.gov] The newly found fourth PFIC gene TJP2 (23 coding exons) encodes the tight junction protein 2, which is involved in the organization of epithelial and endothelial intercellular[preventiongenetics.com] Pathogenic defects in TJP2 include missense, nonsense, splicing site variants, small indels and exon-level large deletions (Human Gene Mutation Database).[preventiongenetics.com]

  • Pregnancy-related

    Mutations of another gene, tight junction protein 2 ( TJP2 ) have recently been implicated in some patients with such disease 40.[doi.org]

  • Autosomal Dominant Primary Hypomagnesemia with Hypocalciuria

    […] of the claudin 16 gene (3q27) coding for a tight junctional protein that regulates paracellular Mg(2 ) transport in the loop of Henle; (4) autosomal-dominant hypoparathyroidism[ncbi.nlm.nih.gov] Paracellin-1 is a member of the tight junction claudin protein family and mutations in the paracellin-1 gene cause a human hereditary disease, familial hypomagnesemia with[wikigenes.org] , a variably hypomagnesemic disorder caused by inactivating mutations of the extracellular Ca(2 )/Mg(2 )-sensing receptor, CASR: gene, at 3q13.3-21 (a significant association[ncbi.nlm.nih.gov]

  • Hypomagnesemia

    It has been recently attributed to a mutation in the Claudin 16 (CLDN 16) gene of the Paracellin-1 (PCLN-1) tight junction protein.[ncbi.nlm.nih.gov] Herein, we report 2 sisters with FHHNC. Both sisters presented at an early stage with hypomagnesemia and hypocalcemia.[ncbi.nlm.nih.gov]

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