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CPN60
- GROEL
- HSP60
- HuCHA60
- SPG13
- P60 lymphocyte protein
- heat shock 60kD protein 1 (chaperonin)
- heat shock 60kDa protein 1 (chaperonin)
- mitochondrial matrix protein P1
- 60 kDa heat shock protein, mitochondrial precursor (Hsp60) (60 kDa chaperonin) (CPN60) (Heat shock
protein 60) (HSP-60) (Mitochondrial matrix protein P1) (P60 lymphocyte protein) (HuCHA60).
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- This gene encodes 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. Two pseudogenes,
both located on chromosome 8, 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.
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- Location: 2q33.1
- Orientation: minus strand
- Size: 13,688 bases
- 12 Exons
- DNA sequence (Human): NC_000002
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- Mutations and SNPs (According
to HGMD and SNP)
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