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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.
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Protein Aliases: Coiled-coil-helix-coiled-coil-helix domain-containing protein 10, mitochondrial; Protein N27C7-4
Gene Aliases: C22orf16; CHCHD10; FTDALS2; IMMD; N27C7-4; SMAJ
UniProt ID: (Human) Q8WYQ3
Entrez Gene ID: (Human) 400916
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