PMPCB

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]

Full Name

peptidase (mitochondrial processing) beta

Function

Catalytic subunit of the essential mitochondrial processing protease (MPP), which cleaves the mitochondrial sequence off newly imported precursors proteins (PubMed:29576218) (Probable). Preferentially, cleaves after an arginine at position P2 (By similarity).
Required for PINK1 turnover by coupling PINK1 mitochondrial import and cleavage, which results in subsequent PINK1 proteolysis (PubMed:22354088).

Biological Process

Mitochondrial calcium ion transmembrane transportTAS:Reactome
Protein processing involved in protein targeting to mitochondrionManual Assertion Based On ExperimentIDA:UniProtKB

Cellular Location

Mitochondrion matrix

Involvement in disease

Multiple mitochondrial dysfunctions syndrome 6 (MMDS6):
An autosomal recessive, neurodegenerative disorder characterized by basal ganglia lesions, cerebellar atrophy, and neurologic regression in the first year of life. Common features include truncal hypotonia, lack of independent ambulation, poor speech, intellectual disability, and motor abnormalities, such as ataxia, dystonia, and spasticity.