• 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 unregulated tyrosine kinase activity of BCR-ABL1 contributes to the immortality of leukaemic cells. The BCR protein has serine/threonine kinase activity and is a GTPase-activating protein for p21rac and other kinases. Two transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Jan 2020]
  

BCR (BCR Activator Of RhoGEF And GTPase) is a Protein Coding gene. Diseases associated with BCR include Leukemia, Chronic Myeloid and B-Lymphoblastic Leukemia/Lymphoma With T(9;22)(Q34.1;Q11.2). Among its related pathways are Ponatinib Pathway, Pharmacokinetics/Pharmacodynamics and RHOC GTPase cycle. Gene Ontology (GO) annotations related to this gene include protein tyrosine kinase activity and enzyme binding. An important paralog of this gene is ABR.