HSPB8 : heat shock protein family B (small) member 8
Description
The HSPB8 (heat shock protein family B (small) member 8) is a protein-coding gene located on chromosome 12.
The HSPB8 gene provides instructions for making a protein called heat shock protein beta-8 (also called heat shock protein 22). This protein is part of the heat shock protein family, which helps protect cells under stressful conditions like infection, inflammation, toxins, high temperatures, injury, and disease. They block signals that cause programmed cell death, and are involved in cell movement, maintaining the cell's structure, folding and stabilizing new proteins, repairing damaged proteins, and muscle contraction. Heat shock protein beta-8 is found in all cells, especially nerve cells, and interacts with heat shock protein beta-1. In nerve cells, heat shock protein beta-1 helps organize neurofilaments, which maintain the diameter of axons. This is important for nerve signal transmission, but the specific role of heat shock protein beta-8 in axons is unknown.
HSPB8 is also known as CMT2L, DHMN2, E2IG1, H11, HMN2, HMN2A, HMND2, HSP22, HSPB8-N1, HSPB8-N2.
Associated Diseases
- Neuronopathy, distal hereditary motor, type IIA
- Charcot-Marie-Tooth disease, axonal, type 2L
- Charcot-Marie-Tooth disease
- Distal hereditary motor neuropathy, type II
