HSPB3

This gene encodes a muscle-specific small heat shock protein. A mutation in this gene is the cause of autosomal dominant distal hereditary motor neuropathy type 2C.[provided by RefSeq, Sep 2010]

Full Name

Heat Shock Protein Family B (Small) Member 3

Function

Inhibitor of actin polymerization.

Biological Process

Response to unfolded protein Source: ProtInc

Cellular Location

Nucleus; Cytoplasm. Translocates to nuclear foci during heat shock.

Involvement in disease

Neuronopathy, distal hereditary motor, 2C (HMN2C):
A neuromuscular disorder. Distal hereditary motor neuronopathies constitute a heterogeneous group of neuromuscular disorders caused by selective degeneration of motor neurons in the anterior horn of the spinal cord, without sensory deficit in the posterior horn. The overall clinical picture consists of a classical distal muscular atrophy syndrome in the legs without clinical sensory loss. The disease starts with weakness and wasting of distal muscles of the anterior tibial and peroneal compartments of the legs. Later on, weakness and atrophy may expand to the proximal muscles of the lower limbs and/or to the distal upper limbs.