PMPCB

Chr 7

peptidase, mitochondrial processing subunit beta

Also known as: Beta-MPP, MAS1, MPP11, MPPB, MPPP52, P-52

NCBI Gene: 9512 ENSG00000105819 UniProt: O75439

The protein functions as the catalytic subunit of mitochondrial processing protease, which cleaves leader peptides from newly imported mitochondrial precursor proteins and is required for PINK1 turnover. Mutations cause multiple mitochondrial dysfunctions syndrome 6, inherited in an autosomal recessive pattern. The pathogenic mechanism appears to be dominant negative, where mutant proteins likely interfere with the essential mitochondrial protein processing function.

ResearchSummary from RefSeq, OMIM, UniProt, Mechanism

This gene is a member of the peptidase M16 family and encodes a protein with a zinc-binding motif. This protein is located in the mitochondrial matrix and catalyzes the cleavage of the leader peptides of precursor proteins newly imported into the mitochondria, though it only functions as part of a heterodimeric complex. [provided by RefSeq, Jul 2008]

ResearchGenerating clinical summary…