CHCHD10, whose full official name is coiled-coil-helix-coiled-coil-helix domain containing 10, is a gene found in Humans encoding a mitochondrial protein that is enriched at cristae junctions in the intermembrane space. It may play a role in cristae morphology maintenance or oxidative phosphorylation. CHCHD10-related disorders include mitochondrial myopathy, amyotrophic lateral sclerosis (ALS), frontotemporal dementia (FTD), late-onset spinal motor neuronopathy (SMAJ), and cerebellar ataxia. Alternative splicing of this gene results in multiple transcript variants.
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CHCHD10 Wikipedia(Text) CC BY-SA