HSPB3
Function
Inhibitor of actin polymerization.
Involvement in disease
Neuronopathy, distal hereditary motor, autosomal dominant 4
HMND4
A form of distal hereditary motor neuronopathy, 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.
None
The disease is caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the small heat shock protein (HSP20) family.
Cellular localization
- Cytoplasm
- Nucleus
- Translocates to nuclear foci during heat shock.
Alternative names
HSP27, HSPL27, HSPB3, Heat shock protein beta-3, HspB3, Heat shock 17 kDa protein, Heat shock protein family B member 3, Protein 3, HSP 17