MIPEP
Function
Cleaves proteins, imported into the mitochondrion, to their mature size.
Involvement in disease
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.
None
The disease is caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the peptidase M3 family.
Cellular localization
- Mitochondrion matrix
Alternative names
MIP, MIPEP, Mitochondrial intermediate peptidase