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Rabbit Anti-Desmoglein 2/FITC Conjugated antibody
background:
Desmosomes are cell-cell junctions between epithelial, myocardial, and certain other cell types. Desmoglein 2 is a calcium-binding transmembrane glycoprotein component of desmosomes in vertebrate epithelial cells. Currently, three desmoglein subfamily members have been identified and all are members of the cadherin cell adhesion molecule superfamily. These desmoglein gene family members are located in a cluster on chromosome 18. This second family member is expressed in colon, colon carcinoma, and other simple and stratified epithelial-derived cell lines.
Function:
Component of intercellular desmosome junctions. Involved in the interaction of plaque proteins and intermediate filaments mediating cell-cell adhesion.
Subcellular Location:
Cell membrane; Single-pass type I membrane protein. Cell junction, desmosome.
Tissue Specificity:
All of the tissues tested and carcinomas.
DISEASE:
Defects in DSG2 are the cause of familial arrhythmogenic right ventricular dysplasia type 10 (ARVD10) [MIM:610193]; also known as arrhythmogenic right ventricular cardiomyopathy 10 (ARVC10). ARVD is an autosomal dominant disease characterized by partial degeneration of the myocardium of the right ventricle, electrical instability, and sudden death. It is clinically defined by electrocardiographic and angiographic criteria; pathologic findings, replacement of ventricular myocardium with fatty and fibrous elements, preferentially involve the right ventricular free wall.
Genetic variations in DSG2 are the cause of susceptibility to cardiomyopathy dilated type 1BB (CMD1BB) [MIM:612877]. A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death.
Similarity:
Contains 4 cadherin domains.
Database links:
Entrez Gene: 1829 Human
Entrez Gene: 13511 Mouse
Entrez Gene: 307562 Rat
Omim: 125671 Human
SwissProt: Q14126 Human
SwissProt: O55111 Mouse
Unigene: 412597 Human
Unigene: 345891 Mouse
Important Note:
This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
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