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Human CHN1 wild-type allele is located in the vicinity of 2q31.1 and is approximately 206 kb in length. This allele, which encodes N-chimaerin protein, plays a role in the modulation of signaling. Mutation of the gene is associated with Duane retraction syndrome 2. A translocation of this gene and the TAF15 gene may be associated with extraskeletal myxoid chondrosarcoma.
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