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HSPD1 / HSP60 is a member of the chaperonin family. The encoded mitochondrial protein may function as a signaling molecule in the innate immune system. This protein is essential for the folding and assembly of newly imported proteins in the mitochondria. This gene is adjacent to a related family member and the region between the 2 genes functions as a bidirectional promoter. Several pseudogenes have been associated with this gene. Two transcript variants encoding the same protein have been identified for this gene. Mutations associated with this gene cause autosomal recessive spastic paraplegia 13.
Gene Name: | heat shock 60kDa protein 1 (chaperonin) |
Synonyms: | HSPD1, 60 kDa chaperonin, CPN60, Heat shock protein 65, Heat shock protein 60, HSP-60, HSP60, HuCHA60, HLD4, HSP65, p60 lymphocyte protein, SPG13, Chaperonin 60, GROEL |
Target Sequences: | NM_002156 NP_002147.2 P10809 |
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