HSPB1 : heat shock protein family B (small) member 1

Description

The HSPB1 (heat shock protein family B (small) member 1) is a protein-coding gene located on chromosome 7.

The HSPB1 gene provides instructions for making a protein called heat shock protein beta-1 (also called heat shock protein 27). This protein is a member of the heat shock protein family, which helps protect cells under adverse conditions such as infection, inflammation, exposure to toxins, elevated temperature, injury, and disease. Heat shock proteins block signals that lead to programmed cell death. In addition, they appear to be involved in activities such as cell movement (motility), stabilizing the cell's structural framework (the cytoskeleton), folding and stabilizing newly produced proteins, and repairing damaged proteins. Heat shock proteins also appear to play a role in the tensing of muscle fibers (muscle contraction). Heat shock protein beta-1 is found in cells throughout the body and is particularly abundant in nerve and muscle cells. In nerve cells, this protein helps to organize a network of molecular threads called neurofilaments that maintain the diameter of specialized extensions called axons. Maintaining proper axon diameter is essential for the efficient transmission of nerve impulses. Although it is thought to play a role in muscle contraction, the specific function of heat shock protein beta-1 in muscle cells is unclear.

HSPB1, also known as heat shock protein beta-1, acts as a molecular chaperone, potentially stabilizing unfolded proteins to aid in proper folding. It contributes to stress resistance and the organization of actin filaments. Through its chaperone activity, HSPB1 may regulate various biological processes, including phosphorylation and axonal transport of neurofilament proteins.

HSPB1 is also known as CMT2F, HEL-S-102, HMN2B, HMND3, HS.76067, HSP27, HSP28, Hsp25, SRP27.

Associated Diseases

WES Whole Exome Sequencing

Clinical Exome Sequencing