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.
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Protein Aliases: ABL; BCR protein; bcr/abl; BCR/FGFR1 chimera protein; breakpoint cluster region; Breakpoint cluster region protein; c-ABL; c-abl oncogene 1; EC 188.8.131.52; FGFR1/BCR chimera protein; JTK7; Renal carcinoma antigen NY-REN-26; RP11-83J21.1; v-abl
Gene Aliases: ALL; BCR; BCR1; CML; D22S11; D22S662; PHL
UniProt ID: (Human) P11274
Entrez Gene ID: (Human) 613