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Human UQCRH wild-type allele is located in the vicinity of 1p34.1 and is approximately 13 kb in length. This allele, which encodes cytochrome b-c1 complex subunit 6, mitochondrial protein, is involved in aerobic respiration. A complex rearrangement involving a paracentric inversion of chromosome 22q12 followed by translocation t(1;22)(p34;q12) results in the fusion of this gene to both the EWSR1 gene and the PATZ1 gene. These fusions are associated with small round cell sarcoma.
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