Heat Shock 27kDa Protein 3 (HSPB3) Human Recombinant Protein

HSPB3: Inhibitor of actin polymerization. Defects in HSPB3 are the cause of distal hereditary motor neuronopathy type 2C (HMN2C). It is 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. Belongs to the small heat shock protein (HSP20) family.

Protein type: Heat shock protein

Chromosomal Location of Human Ortholog: 5q11.2

Cellular Component: cytoplasm; nucleus

Biological Process: response to unfolded protein

Disease: Neuronopathy, Distal Hereditary Motor, Type Iic