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CHCHD10 encodes 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. Mutations in this gene cause frontotemporal dementia and/or amyotrophic lateral sclerosis-2. Alternative splicing of this gene results in multiple transcript variants. Related pseudogenes have been identified on chromosomes 7 and 19.
Gene Name: | coiled-coil-helix-coiled-coil-helix domain containing 10 |
Synonyms: | CHCHD10, C22orf16, Protein N27C7-4, N27C7-4 |
Target Sequences: | NM_213720 NP_998885.1 Q8WYQ3 |
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