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C215440Level 5

CHCHD2 wt Allele

**Semantic type:** Gene or Genome

**Definition:** Human CHCHD2 wild-type allele is located in the vicinity of 7p11.2 and is approximately 12 kb in length. This allele, which encodes coiled-coil-helix-coiled-coil-helix domain-containing protein 2, is involved in transcriptional regulation via binding to oxygen responsive elements of target genes. Mutations in the gene are associated with autosomal dominant Parkinson disease 22.

**Synonyms:** - AAG10 - Aging-Associated Gene 10 - C7orf17 - Chromosome 7 Open Reading Frame 17 Gene - Coiled-Coil-Helix-Coiled-Coil-Helix Domain Containing 2 wt Allele - Coiled-Coil-Helix-Coiled-Coil-Helix Domain-Containing Protein 2, Mitochondrial Gene - MIX17 Homolog B Gene - MIX17B - MNRR1 - Mitochondria Nuclear Retrograde Regulator 1 Gene - Mitochondrial Nuclear Retrograde Regulator 1 Gene - NS2TP - PARK22

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