
TJP2 Gene - GeneCards | ZO2 Protein | ZO2 Antibody
2024年12月25日 · TJP2 (Tight Junction Protein 2) is a Protein Coding gene. Diseases associated with TJP2 include Cholestasis, Progressive Familial Intrahepatic, 4 and Hypercholanemia, Familial 1. Among its related pathways are Blood-Brain Barrier and Immune Cell Transmigration: VCAM-1/CD106 Signaling and Signaling by Rho GTPases.
Tight junction protein ZO-2 - Wikipedia
Tight junction protein ZO-2 is a protein that in humans is encoded by the TJP2 gene. [5] Tight junction proteins (TJPs) belong to a family of membrane-associated guanylate kinase (MAGUK) homologs that are involved in the organization of epithelial and endothelial intercellular junctions.
TJP2 tight junction protein 2 [ (human)] - National Center for ...
Familial hypercholanemia in Amish individuals is associated with mutations in tight junction protein 2 (encoded by TJP2, also known as ZO-2) and bile acid Coenzyme A: amino acid N-acyltransferase (encoded by BAAT). This gene encodes a zonula occluden that is a member of the membrane-associated guanylate kinase homolog family.
Mutations in TJP2 cause progressive cholestatic liver disease
Protein-truncating mutations in the tight junction protein 2 gene (TJP2) are shown to cause failure of protein localisation, with disruption of tight-junction structure leading to severe cholestatic liver disease. This contrasts with the embryonic-lethal knockout mouse, highlighting differences in redundancy in junctional complexes between ...
肝细胞和胆管细胞表达的ZO-2/Tjp2对肝损伤和胆汁淤积的保护作 …
通过血浆、肝脏和胆汁的生化分析以及电子显微镜、组织学和免疫染色来评估对肝脏的影响。 使用异硫氰酸荧光素-葡聚糖 (4 kDa) 评估 TJ 屏障渗透性。 胆酸(CA)饮食用于评估对肝损伤的易感性。 Tjp2 的 肝脏特异性缺失导致 Cldn1 蛋白水平降低、TJ 的微小变化、小管扩张、微绒毛密度降低以及异常的根和胆盐输出泵 (BSEP) 分布,而 TJ 通透性没有明显增加。 肝 Tjp2 缺陷小鼠出现轻度进行性胆汁淤积,胆汁酸转运蛋白 Abcb11 / Bsep 和解毒酶 Cyp2b10 的 表达水平较低。 对 …
ZO-2/Tjp2 suppresses Yap and Wwtr1/Taz-mediated hepatocyte …
2022年9月23日 · The DDC-diet-induced hepatocyte transdifferentiation in Tjp2 cKO mice requires Yap and Wwtr1/Taz, whose protein expression is upregulated in hepatocytes lacking Tjp2, but is independent of...
Entry - *607709 - TIGHT JUNCTION PROTEIN 2; TJP2 - OMIM
The TJP2 gene encodes tight junction protein-2, which belongs to a family of membrane-associated guanylate kinase (MAGUK) homologs involved in the organization of epithelial and endothelial intercellular junctions.
TJP2 hepatobiliary disorders: Novel variants and clinical diversity
TJP2 disease in children includes a full clinical spectrum of severity, with mild or intermittent forms as well as the severe and minimal forms hitherto described. Biallelic TJP2 variants must be considered in children with clinically intermittent or resolved intrahepatic cholestasis.
Two Novel Pathogenic Variants of TJP2 Gene and the Underlying …
Biallelic pathogenic variants in the tight junction protein 2 gene (TJP2) were newly reported as a cause for PFIC type 4; however, only a limited number of patients and undisputable variants have been reported for TJP2, and the underlying mechanism for PFIC 4 remains poorly understood.
New tight junction protein 2 variant causing progressive familial ...
Progressive familial intrahepatic cholestasis (PFIC) encompasses a group of autosomal recessive disorders with high morbidity and mortality. Variants in the gene encoding tight junction protein-2 (TJP2) have been linked to PFIC type 4 (PFIC4), which ...