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  • Human HSPD1 wild-type allele is located in the vicinity of 2q33.1 and is approximately 30 kb in length. This allele, which encodes 60 kDa heat shock protein, mitochondrial, is involved in both import and folding of mitochondrial proteins. Mutation of the gene is associated with spastic paraplegia 13 and leukodystrophy hypomyelinating type 4.
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