- Source: HSPB8
Heat shock protein beta-8 is a protein that in humans is encoded by the HSPB8 gene.
Interactions
HSPB8 has been shown to interact with:
HSPB2, and
Hsp27.
Clinical importance
Mutations in this gene have been associated with an autosomal dominant rimmed vacuolar myopathy The clinical features of this condition are distal and proximal myopathy. MRI show severe relatively symmetric multifocal fatty degenerative changes within the muscles. Muscle biopsy shows rimmed vacuoles, muscle fiber atrophy and endomysial fibrosis.
References
Further reading
External links
GeneReviews/NCBI/NIH/UW entry on Charcot-Marie-Tooth Neuropathy Type 2
Kata Kunci Pencarian:
- Daftar gen penyandi protein pada manusia/2
- HSPB8
- Crystallin
- Chaperone-assisted selective autophagy
- List of human protein-coding genes 2
- List of genetic disorders
- Charcot–Marie–Tooth disease classifications
- Spinal muscular atrophies
- Stress granule
- HSPB6
- Distal hereditary motor neuronopathies