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A reciprocal translocation between chromosomes 22 and 9 produces the Philadelphia chromosome, which is often found in patients with chronic myelogenous leukemia. The chromosome 22 breakpoint for this translocation is located within the BCR gene. The translocation produces a fusion protein which is encoded by sequence from both BCR and ABL, the gene at the chromosome 9 breakpoint. Although the BCR-ABL fusion protein has been extensively studied, the function of the normal BCR gene product is not clear. The protein has serine/threonine kinase activity and is a GTPase-activating protein for p21rac. Two transcript variants encoding different isoforms have been found for this gene.
Gene Name: | breakpoint cluster region |
Family/Subfamily: | Protein Kinase , BCR |
Synonyms: | BCR, Acute lymphocytic leukemia, ALL, BCR1, BCR/FGFR1 chimera protein, Breakpoint cluster region, Chronic myeloid leukemia, D22S11, CML, D22S662, Philadelphia chromosome, PHL, FGFR1/BCR chimera protein |
Target Sequences: | NM_004327 NP_004318.3 P11274 |
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