BCR Gene

Last updated on: 04.01.2022

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Definition
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The BCR gene (BCR is the acronym for breakpoint cluster region) is a human gene located on the long arm of chromosome 22 (22q11.23) and has 23 exons. The physiological function of the BCR gene product is not yet known. The encoded protein has serine/threonine kinase activity and is a GTPase-activating protein for protein p21rac (renal carcinoma antigen NY-REN-26).

Two mRNA variants of the BCR gene have been found, encoding different isoforms. The BCR gene, together with the ABL1 gene, is involved in the reciprocal translocation t(9;22)(q34;q11) leading to the Philadelphia chromosome.

Literature
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  1. de Klein A et al.(1982) A cellular oncogene is translocated to the Philadelphia chromosome in chronic myelocytic leukaemia. Nature 300: 765-767
  2. Knas T (2016) Detection of BCR/ABL1 fusion - Comparative analysis of six commercial probe sets for fluorescence in situ hybridization. Dissertation for the degree of Doctor of Medicine of the Medical Faculty of the University of Ulm, Germany.
  3. Koretzky GA (2007) The legacy of the Philadelphia chromosome. J Clin Invest 117: 2030-2032

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Philadelphia-Chromosom ;

Last updated on: 04.01.2022