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Protein Page:
DSG4 (human)

Overview
DSG4 Component of intercellular desmosome junctions. Involved in the interaction of plaque proteins and intermediate filaments mediating cell-cell adhesion. Coordinates the transition from proliferation to differentiation in hair follicle keratinocytes. Defects in DSG4 are the cause of hypotrichosis type 6 (HYPT6). A condition characterized by the presence of less than the normal amount of hair, involving mainly the scalp, chest, arms and legs. It is characterized by abnormal hair follicles and shafts, which are thin and atrophic. Autoantibodies against DSG4 are found in patients with pemphigus vulgaris. Pemphigus vulgaris is a potentially lethal skin disease in which epidermal blisters occur as the result of the loss of cell-cell adhesion. 2 isoforms of the human protein are produced by alternative splicing. Note: This description may include information from UniProtKB.
Protein type: Cell adhesion; Membrane protein, integral
Chromosomal Location of Human Ortholog: 18q12.1
Disease: Hypotrichosis 6
Reference #:  Q86SJ6 (UniProtKB)
Alt. Names/Synonyms: Cadherin family member 13; CDGF13; CDH family member 13; CDHF13; desmoglein 4; Desmoglein-4; DSG4; LAH
Gene Symbols: DSG4
Molecular weight: 113,824 Da
Basal Isoelectric point: 4.42  Predict pI for various phosphorylation states
Select Structure to View Below

DSG4

Protein Structure Not Found.


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