3.4.24.59: mitochondrial intermediate peptidase

This is an abbreviated version, for detailed information about mitochondrial intermediate peptidase, go to the full flat file.

Reaction

release of an N-terminal octapeptide as second stage of processing of some proteins imported into the mitochondrion =

Synonyms

hMIP, Icp55, MIP, MIP1, MIPEP, mitochondrial intermediate peptidase, OCT1, octapeptidyl aminopeptidase 1, Proteinase, mitochondrial intermediate precursor-processing

ECTree

     3 Hydrolases
         3.4 Acting on peptide bonds (peptidases)
             3.4.24 Metalloendopeptidases
                3.4.24.59 mitochondrial intermediate peptidase

Disease

Disease on EC 3.4.24.59 - mitochondrial intermediate peptidase

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DISEASE
TITLE OF PUBLICATION
LINK TO PUBMED
Muscle Hypotonia
MIPEP recessive variants cause a syndrome of left ventricular non-compaction, hypotonia, and infantile death.
Myopia
Genetic variants at 13q12.12 are associated with high myopia in the Han Chinese population.
Neurodegenerative Diseases
Functional and genomic analysis of the human mitochondrial intermediate peptidase, a putative protein partner of frataxin.