• Source: HSPB3

Heat shock protein beta-3 (HspB3) also known as heat shock 27kDa protein 3 is a protein that in humans is encoded by the HSPB3 gene.




Function


This gene encodes a muscle-specific small heat shock protein.




Clinical significance


A mutation in this gene is the cause of autosomal dominant distal hereditary motor neuropathy type 2C.




References






Further reading



This article incorporates text from the United States National Library of Medicine, which is in the public domain.

Kata Kunci Pencarian:

• Daftar gen penyandi protein pada manusia/2
• HSPB3
• Crystallin
• List of human protein-coding genes 2
• List of genetic disorders
• Distal hereditary motor neuronopathies
• CRYAB
• Myotonin-protein kinase
• HSPB2
• Hsp20
• HSPB6