KRT83

KRT83 is a gene that encodes a type II keratin, one of the major structural proteins in hair and nails. This gene is specifically expressed in the hair follicle and is essential for the formation of hair shafts. Mutations in KRT83 have been associated with monilethrix, a rare autosomal dominant hair disorder characterized by beaded or moniliform hair shafts.

Structure

The KRT83 gene is located on chromosome 12 (12q13.13). It spans approximately 7.5 kilobases and consists of 9 exons. The encoded protein, keratin 83, is a member of the keratin family, which is characterized by the presence of a central rod domain. This domain is composed of four alpha-helix segments, which are separated by three linker regions. The N- and C-termini of the protein are non-helical and are involved in the assembly of keratin filaments.

Function

Keratin 83 is a type II keratin, which pairs with type I keratins to form heterodimers. These heterodimers then assemble into filaments, which provide structural support to the cells in which they are expressed. In the hair follicle, keratin 83 is essential for the formation of the hair shaft. It contributes to the strength and resilience of the hair, and its expression is regulated during the hair growth cycle.

Clinical significance

Mutations in KRT83 have been associated with monilethrix, a rare hair disorder. This condition is characterized by the presence of beaded or moniliform hair shafts, which result in hair fragility and patchy alopecia. The mutations often result in a dysfunctional keratin 83 protein, which disrupts the formation of keratin filaments and compromises the structural integrity of the hair shaft.

See also

• Keratin
• Hair follicle
• Monilethrix

References

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