HSPD1

(redirected from SPG13)

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.
References in periodicals archive ?
Hereditary spastic paraplegia SPG13 is associated with a mutation in the gene encoding the mitochondrial chaperonin Hsp60," The American Journal of Human Genetics, vol.
Also another form of HSP, that is, SPG13, is caused by mutations in the HSPD1 gene that encodes heat shock protein 60, which is crucial for the folding of several mitochondrial proteins, once again affecting mitochondrial function [102].