基因名称(Gene Name)
DSG4 CDHF13
蛋白名称
Desmoglein-4 (Cadherin family member 13)
免疫原
Synthesized peptide derived from part region of human protein
特异性
DSG4 Monoclonal Antibody detects endogenous levels of protein.
组成
Liquid in PBS containing 50% glycerol, and 0.02% sodium azide.
纯化工艺
The antibody was affinity-purified from mouse antiserum by affinity-chromatography using epitope-specific immunogen.
背景
This gene encodes a member of the desmoglein subgroup of desmosomal cadherins. The encoded preproprotein is proteolytically processed to generate the mature protein. This protein is a transmembrane component of desmosomes and may play a role in cell-cell adhesion in epithelial cells. Mutations in the gene are associated with localized autosomal recessive hypotrichosis and monilethrix, characterized by impaired hair growth. [provided by RefSeq, May 2016],
功能
disease:Defects in DSG4 are the cause of localized autosomal hypotrichosis (LAH) [MIM:607903]. LAH is an autosomal recessive skin disorder. Affected members displayed hypotrichosis restricted to the scalp, chest, arms and legs. It is characterized by abnormal hair follicles and shafts, which are thin and atrophic.,disease:DSG4 is one of the target molecules recognized by autoantibodies 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.,domain:Calcium may be bound by the cadherin-like repeats .,function: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.,similarity:Contain
