HSPB1

MedlinePlus Genetics provides information about Charcot-Marie-Tooth disease

Researchers have identified at least 14 HSPB1 gene mutations that cause a condition called distal hereditary motor neuropathy, type II, which is characterized by progressive weakness, primarily in the feet and legs.

HSPB1 gene mutations that cause distal hereditary motor neuropathy, type II change single protein building blocks (amino acids) in heat shock protein beta-1. Studies suggest that the altered protein may be more likely to form clusters (aggregates) and 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.