" /> CHCHD10 wt Allele - CISMeF





Preferred Label : CHCHD10 wt Allele;

NCIt synonyms : N27C7-4; MIX17 Homolog A Gene; IMMD; MIX17A; FTDALS2; SMAJ; Coiled-Coil-Helix-Coiled-Coil-Helix Domain Containing 10 wt Allele; C22orf16; Chromosome 22 Open Reading Frame 16 Gene;

NCIt definition : Human CHCHD10 wild-type allele is located in the vicinity of 22q11.23 and is approximately 2 kb in length. This allele, which encodes coiled-coil-helix-coiled-coil-helix domain-containing protein 10, mitochondrial protein, may play a role in cristae morphology and oxidative phosphorylation. Mutations in the gene are associated with autosomal dominant isolated mitochondrial myopathy, Jokela type spinal muscular atrophy and frontotemporal dementia and/or amyotrophic lateral sclerosis 2.;

GenBank Accession Number : AB050774;

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29/07/2025


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