HSPB8 gene
The HSPB8 gene provides instructions for creating a heat shock protein that helps protect cells from stress and maintains the structural integrity of nerve cells.
Normal Function
The HSPB8 gene provides instructions for making a protein called heat shock protein beta-8. This protein belongs to the heat shock protein family, which protects cells under stress from factors such as infection, inflammation, toxins, heat, injury, and disease. These proteins block signals that lead to cell self-destruction (apoptosis) and are involved in cell movement, stabilizing the cytoskeleton, folding newly produced proteins, and repairing damaged proteins.
Heat shock protein beta-8 is found throughout the body. In nerve cells (neurons), it interacts with heat shock protein beta-1 to help organize neurofilaments, which maintain the structure of the axon and allow for the efficient transmission of nerve impulses.
Health Conditions Related to Genetic Changes
Distal hereditary motor neuropathy, type II
Variants in the HSPB8 gene cause distal hereditary motor neuropathy, type II. This condition involves damage to motor neurons in the brain and spinal cord, leading to progressive weakness and muscle tissue loss (atrophy) in the feet and legs.
Research suggests that these variants produce an altered version of heat shock protein beta-8 that forms clusters (aggregates). These aggregates impair cell function, and the lack of functional protein leaves motor neurons vulnerable to stress and damage, eventually causing them to die.
Other Disorders
Variants in the HSPB8 gene are also associated with:
- Charcot-Marie-Tooth disease
- Myofibrillar myopathy
Other Names for This Gene
- H11
- heat shock protein beta-8
- HSP22
- HspB8
- HSPB8_HUMAN
- protein kinase H11