HSPB8 wt Allele

**Semantic type:** Gene or Genome

**Definition:** Human HSPB8 wild-type allele is located in the vicinity of 12q24.23 and is approximately 16 kb in length. This allele, which encodes heat shock protein beta-8, is involved in the modulation of autophagy and protein folding. Mutation of the gene is associated with both distal hereditary motor neuronopathy type 2A and Charcot-Marie-Tooth disease type 2L.

**Synonyms:** - CMT2L - E2IG1 - H11 - HMN2 - HMN2A - HSP22 - Heat Shock 22kDa Protein 8 wt Allele - Heat Shock 27kDa Protein 8 Gene - HspB8 - PP1629