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Rabbit Anti-Desmocollin 4/FITC Conjugated antibody
background:
Component of intercellular desmosome junctions. Involved in the interaction of plaque proteins and intermediate filaments mediating cell-cell adhesion. May contribute to epidermal cell positioning (stratification) by mediating differential adhesiveness between cells that express different isoforms.
Function:
Component of intercellular desmosome junctions. Involved in the interaction of plaque proteins and intermediate filaments mediating cell-cell adhesion. May contribute to epidermal cell positioning (stratification) by mediating differential adhesiveness between cells that express different isoforms.
Subcellular Location:
Cell membrane. Cell junction > desmosome.
Tissue Specificity:
Epidermis, buccal mucosa, esophagus and cervix.
DISEASE:
Defects in DSC3 are the cause of hypotrichosis and recurrent skin vesicles (HRSV) [MIM:613102]. A disorder characterized by hypotrichosis and the appearance of recurrent skin vesicle formation. Affected individuals show sparse and fragile hair on scalp, as well as absent eyebrows and eyelashes. Vesicles filled with thin, watery fluid are observed on the scalp and skin of most of the boby. Mucosal vesicles are absent.
Database links:
Entrez Gene: 1825 Human
Entrez Gene: 13507 Mouse
Entrez Gene: 307563 Rat
Omim: 600271 Human
SwissProt: Q14574 Human
SwissProt: P55850 Mouse
Unigene: 41690 Human
Unigene: 89935 Mouse
Unigene: 99931 Rat
Important Note:
This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
Involvement in disease;Defects in DSC3 are the cause of hypotrichosis and recurrent skin vesicles (HRSV). A disorder characterized by hypotrichosis and the appearance of recurrent skin vesicle formation. Affected individuals show sparse and fragile hair on scalp, as well as absent eyebrows and eyelashes. Vesicles filled with thin, watery fluid are observed on the scalp and skin of most of the boby. Mucosal vesicles are absent.
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