Entrez gene ID | | 3329 |
Official gene symbol | | HSPD1 |
Full name | | heat shock 60kDa protein 1 (chaperonin) |
Aliases | | ,CPN60,GROEL,HLD4,HSP60,HSP65,HuCHA60,SPG13, |
Gene summary | | 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. 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. [provided by RefSeq] |
Location | | Chromosome: 2 Locus: 2q33.1 |
Gene position | | 198364998 - 198351308 Map Viewer |
Gene orientation | | minus |
Gene size | | 13691 bp |
Gene sequence |
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OMIM ID | | 118190 |