HSPD1

HSPD1

A gene on chromosome 2q33.1 that encodes a mitochondrial protein of the chaperonin family, which may function as a signalling molecule in the innate immune system. It is essential for the folding and assembly of newly imported proteins in mitochondria. HSPD1 is adjacent to a related gene; the region between the two acts as a bidirectional promoter.
Molecular pathology
HSPD1 mutations cause autosomal recessive spastic paraplegia 13.