ERAL1 is a chaperone for mitochondrial 12S rRNA and is involved in the biogenesis of the mitochondrial ribosome. Studies indicate that disturbances of mitochondrial translation are the cause of ERAL1 associated Perrault syndrome.
Perrault syndrome – ERAL1-associated Perrault syndrome has been associated with a single homozygous hypomorphic missense variant. Other variants in ERAL1 are presumed to be causative for Perrault syndrome, although none have been reported to date.