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C190806Level 4

CHAMP1 wt Allele

**Semantic type:** Gene or Genome

**Definition:** Human CHAMP1 wild-type allele is located in the vicinity of 13q34 and is approximately 23 kb in length. This allele, which encodes chromosome alignment-maintaining phosphoprotein 1, plays a role in chromosome alignment during metaphase. Mutation of the gene is associated with neurodevelopmental disorder with hypotonia, impaired language, and dysmorphic features (formerly autosomal dominant mental retardation 40; MRD40).

**Synonyms:** - C13orf8 - CAMP - CHAMP - Chromosome 13 Open Reading Frame 8 Gene - Chromosome Alignment Maintaining Phosphoprotein 1 wt Allele - KIAA1802 - MRD40 - NEDHILD - ZNF828

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