KRT81
KRT81 (also known as Keratin 81) is a type of keratin protein that is encoded in humans by the KRT81 gene. It is a member of the keratin family, which is a group of fibrous structural proteins that form the main component of hair, nails, and the outer layer of skin.
Function
KRT81 is a type of intermediate filament protein that provides structural support to cells. It is specifically involved in the formation of hair shafts, contributing to the strength and resilience of hair. Mutations in the KRT81 gene can lead to Monilethrix, a rare genetic condition characterized by beaded or brittle hair.
Structure
The KRT81 protein is a type of Type II keratin, which means it is a basic or neutral protein. It forms a complex with Type I keratin to create the intermediate filaments in hair cells. The structure of KRT81 is characterized by a central alpha-helical rod domain, flanked by non-helical head and tail domains.
Clinical significance
Mutations in the KRT81 gene can cause Monilethrix, a condition characterized by abnormal hair shafts and hair loss. This condition is inherited in an autosomal dominant manner. There is currently no cure for Monilethrix, but treatments can help manage the symptoms.
See also
References
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Contributors: Prab R. Tumpati, MD