KRT86 gene
The KRT86 gene encodes a keratin protein that serves as a fundamental building block for the strength and elasticity of the hair shaft.
Normal Function
The KRT86 gene provides instructions for making the type II hair keratin K86 protein (K86). As a member of the keratin family, this tough, fibrous protein forms the structural framework for hair, skin, and nails. K86 partners with other keratin proteins to form intermediate filaments, which create strong networks that protect tissues from everyday physical stresses. The K86 protein is located in the cortex of the hair shaft, where it is essential for maintaining hair strength and elasticity.
Health Conditions Related to Genetic Changes
Monilethrix
Several mutations in the KRT86 gene can cause monilethrix, a condition where hair appears beaded and is prone to breaking due to brittleness. Characteristics of these mutations include:
- Alterations to a single amino acid within the K86 protein.
- Changes typically occur in regions critical for intermediate filament formation.
- The cortex of the affected hair shaft appears abnormal, although the specific mechanism linking the mutation to the beaded hair structure is not fully understood.
Other Names for This Gene
- hair keratin K2.11
- hard keratin, type II, 6
- HB6
- hHb6
- K86
- keratin 86, type II
- keratin K-86
- keratin protein HB6
- keratin-86
- KRT86_HUMAN
- KRTHB6
- MNX
- type II hair keratin Hb6
