Entrez 8988 | Ensembl ENSG00000169271 | |
External IDs MGI: 1928479 HomoloGene: 31369 GeneCards: 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.
Contents
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
HSPB3 Wikipedia(Text) CC BY-SA