Desmoglein proteins are cadherin-type cell adhesion molecules. Desmoglein 4 (dsg4) shares 41% identity with human desmoglein 1, 37% with human desmoglein 2 and 50% with human desmoglein 3. A type I membrane protein of the cadherin protein family, dsg4 is expressed in salivary gland, suprabasal epidermis, hair follicle, testis, prostate and skin. In the hair follicle, dsg4 is an important mediator of keratinocyte cell adhesion and coordinates the transition from proliferation to differentiation. The human DSG4 gene is composed of 16 exons spanning approximately 37 kb of 18q12 and is situated between DSG1 and DSG3.
Function:
DSG4(Desmoglein 4) is a component of intercellular desmosome junctions. DSG4 is involved in the interaction of plaque proteins and intermediate filaments mediating cell-cell adhesion. DSG4 coordinates the transition from proliferation to differentiation in hair follicle keratinocytes. The essential role of desmoglein 4 in skin was established by identifying mutations in families with inherited hypotrichosis, as well as in the lanceolate hair mouse. The human desmoglein 4 gene (DSG4) demonstrates that it is composed of 16 exons spanning approximately 37 kb of 18q12 and is situated between DSG1 and DSG3. Defects in DSG4 are the cause of localized autosomal hypotrichosis (LAH). LAH is an autosomal recessive skin disorder. 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.
Subcellular Location:
Cell membrane; single pass type I membrane protein.
Tissue Specificity:
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.
DISEASE:
Note=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.
Similarity:
Contains 4 cadherin domains.
SWISS:
Q86SJ6
Gene ID:
147409
Database links:
Entrez Gene: 147409 Human
Entrez Gene: 16769 Mouse
Omim: 607892 Human
SwissProt: Q86SJ6 Human
SwissProt: Q7TMD7 Mouse
Unigene: 407618 Human
Unigene: 358619 Mouse
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