Desmoglein-4

Desmoglein-4 is a protein that in humans is encoded by the DSG4 gene. It is a member of the desmoglein family and part of the cadherin cell adhesion molecule superfamily. These proteins are components of desmosome structures within cells, which function in the adhesion of cells to each other.

Function

Desmoglein-4 is a transmembrane protein that is involved in the formation of desmosomes, intercellular junctions that tightly link adjacent cells. This protein is expressed in the outermost layer of the epidermis, the stratum corneum, and the hair follicle, where it plays a crucial role in hair shaft formation.

Clinical significance

Mutations in the DSG4 gene are associated with autosomal recessive hypotrichosis, a hair disorder characterized by sparse or absent hair growth. This condition is caused by defects in the hair shaft, which result in fragile and easily broken hairs.

See also

• Desmoglein
• Cadherin
• Desmosome
• Hypotrichosis

References

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