MIPEP

The product of this gene performs the final step in processing a specific class of nuclear-encoded proteins targeted to the mitochondrial matrix or inner membrane. This protein is primarily involved in the maturation of oxidative phosphorylation (OXPHOS)-related proteins. This gene may contribute to the functional effects of frataxin deficiency and the clinical manifestations of Friedreich ataxia. [provided by RefSeq]

mitochondrial intermediate peptidase

Cleaves proteins, imported into the mitochondrion, to their mature size.

Peptide metabolic process Source: GO_Central
Protein processing involved in protein targeting to mitochondrion Source: GO_Central
Proteolysis Source: GO_Central

Mitochondrion matrix

Combined oxidative phosphorylation deficiency 31 (COXPD31):
An autosomal recessive, severe mitochondrial disease with multisystemic manifestations appearing soon after birth or in early infancy. Clinical features include left ventricular non-compaction, global developmental delay, severe hypotonia, seizures, cataract, and abnormal movements. Death may occur in early childhood.