KRT86
KRT86 is a human gene that encodes for the protein Keratin 86. This protein is a type II keratin, one of the two types of keratin that humans and other mammals have. Keratins are a family of fibrous structural proteins that are key components of the intermediate filament family, which form the cytoskeleton of epithelial cells. Keratin 86, like other type II keratins, is expressed in the upper spinous layer of epidermis and hair follicles.
Function[edit | edit source]
Keratin 86, along with its type I keratin partner keratin 16, is upregulated in the skin during wound healing, suggesting a role in the re-epithelialization process. Mutations in the KRT86 gene have been associated with Monilethrix, a rare autosomal dominant hair disorder characterized by beaded or moniliform hair shafts.
Clinical significance[edit | edit source]
Mutations in this gene have been observed in patients with Monilethrix. The mutations often lead to a fragile hair shaft, which can easily break, leading to hair loss. There is currently no cure for Monilethrix, but treatments can help manage the condition.
See also[edit | edit source]
References[edit | edit source]
External links[edit | edit source]
- KRT86 at the US National Library of Medicine Medical Subject Headings (MeSH)
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