Corresponds to p.Arg175His mutation in human PMPCB, which is been found in patients with multiple mitochondrial dysfunctions syndrome 6
List of references used specifically to curate the information in Overview section.
Vögtle FN, et al. (2018) Mutations in PMPCB Encoding the Catalytic Subunit of the Mitochondrial Presequence Protease Cause Neurodegeneration in Early Childhood. Am J Hum Genet 102(4):557-573