KRT71

Keratin 71, also known as KRT71, is a type I keratin protein. It is encoded by the KRT71 gene and is part of the keratin family of intermediate filament proteins. Keratins are structural proteins that form the hair, nails, and outer layer of the skin in mammals. KRT71 is primarily expressed in the hair follicle, particularly in the inner root sheath and the cuticle. It plays a crucial role in the structural integrity and proper formation of hair. Mutations in the KRT71 gene have been associated with hair disorders. Specifically, mutations can lead to conditions such as uncombable hair syndrome (UHS), also known as pili trianguli et canaliculi. Individuals with UHS often have brittle, frizzy hair that cannot be easily flattened. The altered keratin structure due to KRT71 mutations disrupts the normal arrangement of hair shaft components, resulting in the characteristic unruly appearance. Research into KRT71 continues to shed light on the complex mechanisms governing hair development and the genetic basis of hair abnormalities.