DSG4

DSG4 is a gene that provides instructions for making a protein called desmoglein 4. This protein is found in the outermost layer of skin cells (the epidermis) and in the hair follicle, where it helps attach cells to one another. Desmoglein 4 is part of a group of proteins called cadherins, which are involved in the formation of desmosomes. Desmosomes are structures that help cells stick together and resist shearing. This function is essential for the stability and integrity of tissues that experience friction and shear forces, such as the skin and hair.

Mutations in the DSG4 gene cause a form of hair loss known as autosomal recessive hypotrichosis 6. This condition is characterized by sparse hair (hypotrichosis) on the scalp and body. The hair that does grow is often coarse and twisted, and it breaks easily. Most mutations that cause this condition lead to the production of an abnormally short, nonfunctional version of desmoglein 4. Without functional desmoglein 4, cells in the epidermis and hair follicles are not as strongly attached to one another as they should be. This weak attachment allows the hair to break easily, leading to hypotrichosis.

The DSG4 gene is located on the long (q) arm of chromosome 18 at position 12.1.

See also

• Desmoglein
• Cadherin
• Desmosome
• Hair loss
• Autosomal recessive
• Hypotrichosis
• Chromosome 18

External links

• DSG4 at the Genetics Home Reference

DSG4 Resources
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