KRT81

Monilethrix

At least two mutations in the KRT81 gene have been identified in people with monilethrix, a hair condition characterized by strands of hair with a beaded appearance and short, brittle hair that breaks easily. Mutations associated with this condition change a single protein building block (amino acid) in the K81 protein. The amino acid changes usually occur in a region of the K81 protein thought to be important in intermediate filament formation. In people with monilethrix, the cortex of the affected hair shaft appears abnormal. However, it is unclear how mutations in the KRT81 gene are related to the abnormality in the cortex or the beaded appearance of the hair.