HSPB8
Function
Displays temperature-dependent chaperone activity.
Involvement in disease
Neuronopathy, distal hereditary motor, autosomal dominant 2
HMND2
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.
Charcot-Marie-Tooth disease, axonal, 2L
CMT2L
An axonal form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Neuropathies of the CMT2 group are characterized by signs of axonal degeneration in the absence of obvious myelin alterations, normal or slightly reduced nerve conduction velocities, and progressive distal muscle weakness and atrophy.
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.
Tissue Specificity
Predominantly expressed in skeletal muscle and heart.
Cellular localization
- Cytoplasm
- Nucleus
- Translocates to nuclear foci during heat shock.
Alternative names
CRYAC, E2IG1, HSP22, PP1629, HSPB8, Heat shock protein beta-8, HspB8, Alpha-crystallin C chain, E2-induced gene 1 protein, Heat shock protein family B member 8, Protein kinase H11, Small stress protein-like protein HSP22