MIPEP recessive variants cause a syndrome of left ventricular non-compaction, hypotonia, and infantile death
2016
Background
Mitochondrial presequence proteases perform fundamental functions as they process about 70 % of all mitochondrial preproteins that are encoded in the nucleus and imported posttranslationally. The mitochondrial intermediate presequence protease MIP/Oct1, which carries out precursor processing, has not yet been established to have a role in human disease.
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