HSPD1(redirected from OTTHUMP00000205744)
HSPD1A 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.
HSPD1 mutations cause autosomal recessive spastic paraplegia 13.
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