Health / Medical Topics |
HSPB8 wt Allele
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. (NCI Thesaurus)
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