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],
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Function:
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:Contains 4 cadherin domains.,tissue specificity:Highly expressed in skin, testis and prostate; less in salivary gland. In scalp follicles, present in the inner rooth sheath (IRS) and all layers of the matrix and precortex.,
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Cellular Localization:
Cell membrane ; Single-pass type I membrane protein . Cell junction, desmosome .
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Tissue Expression:
Highly expressed in skin, testis and prostate; less in salivary gland. In scalp follicles, present in the inner root sheath (IRS) and all layers of the matrix and precortex.