HSPD1, Official Symbol HSPD1provided by HGNC Official Full Name heat shock protein family D (Hsp60) member 1provided by HGNC Primary source HGNC:HGNC:5261 See related Ensembl:ENSG00000144381 MIM:118190; AllianceGenome:HGNC:5261 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as HLD4; CPN60; GROEL; HSP60; HSP65; SPG13; HSP-60; HuCHA60 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, Jun 2010] Expression Ubiquitous expression in adrenal (RPKM 359.2), kidney (RPKM 152.5) and 24 other tissues See more Orthologs mouse all