Synonyms: ALL,bcr,BCR/ABL FUSION GENE,INCLUDED,BCR/FGFR1 chimera protein,BCR/FGFR1 FUSION GENE,INCLUDED,BCR/PDGFRA FUSION GENE,INCLUDED,BCR,BCR1,Breakpoint cluster region,Breakpoint cluster region protein,CML,D22S11,D22S662,FGFR1/BCR chimera protein,PHL,Renal carcinoma antigen NY-REN-26
Background: 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.