CHCHD10 wt Allele

**Semantic type:** Gene or Genome

**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.

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