YME1L1 is embedded in the inner mitochondrial membrane and is more abundant in tissues with a high content of mitochondria such as human adult heart, skeletal muscle, and pancreasRNA. YME1L1 is a member of the AAA family of ATPases and has an important role for the maintenance of mitochondrial morphology. Its mature form assembles into a homo-oligomeric complex within the inner mitochondrial membrane (IM). It degrades both intermembrane space and IM proteins, including lipid transfer proteins, components of protein translocases of the IM, and the dynamin-like GTPase optic atrophy 1 (OPA1)  Loss of YME1L1 accelerates OMA1-dependent long-form OPA1 cleavage, resulting in short-form OPA1 accumulation, increased mitochondrial fission, and mitochondrial network fragmentation. It’s also reported that YME1L1 controls the accumulation of respiratory chain subunits and is required for apoptotic resistance, cristae morphogenesis, and cell proliferation.
A homozygous mutation in the YME1L1 gene would cause infantile-onset mitochondriopathy, with severe intellectual disability, muscular impairments, and optic nerve atrophy. The missense mutation affects the MPP processing site and impairs YME1L1 maturation, leading to its rapid degradation, and also leads to a proliferation defect, abnormal OPA1 processing and mitochondrial fragmentation.
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