HSPE1

The protein functions as a mitochondrial co-chaperonin that works with Hsp60 to facilitate proper folding of imported proteins and prevent protein misfolding in the mitochondrial matrix. Mutations cause spastic paraplegia 13, an autosomal recessive disorder characterized by progressive spasticity primarily affecting the lower limbs. This gene is highly constrained against loss-of-function variants, reflecting its essential role in mitochondrial protein quality control.