HSPB8

MedlinePlus Genetics provides information about Charcot-Marie-Tooth disease

Researchers have identified at least five HSPB8 gene mutations that cause a condition called distal hereditary motor neuropathy, type II. This disorder is characterized by progressive weakness, primarily in the feet and legs.

It is unclear how HSPB8 gene mutations lead to the signs and symptoms of distal hereditary motor neuropathy, type II. Research suggests that the altered heat shock protein beta-8 interacts more strongly with heat shock protein beta-1 and is more likely to form clumps (aggregates). The aggregates may block the transport of substances that are essential for the proper function of nerve axons, leading to the signs and symptoms of distal hereditary motor neuropathy, type II.