BCR (gene)

  • OMIM: 151 410
  • UniProt: P11274
  • MGI: 88141

The BCR gene ( Breakpoint cluster region ) is a human gene on chromosome 22, it is one of the genes of the bcr-abl complex, which is associated with the Philadelphia chromosome. The normal product of BCR encodes an enzyme ( a kinase ) with 1271 amino acids, with the alternative name Renal carcinoma antigen NY- REN - 26th

Pathology

A reciprocal ( inverse ) translocation between chromosomes 22 and 9 generates the Philadelphia chromosome, which is often found in patients with chronic myeloid leukemia. The breakpoint on chromosome 22 is located inside of the BCR gene. Translocation produces a fusion protein which is composed of the genes BCR and OJ. Abl is gene which is located in Philadelphia breakpoint region on chromosome 9.

Although the BCR -ABL fusion protein has been intensively studied, the normal function of the BCR gene to date is unclear. The protein has a serine / threonine kinase activity, is a GTPase activating protein for p21rac. Two mRNA variants encoding different isoforms of BCR, have been found.

Protein isoform Human Genome Organisation Mouse Genome Informatics Entrez Ensembl National Center for Biotechnology Information Chromosome 22 (human) Leukemia (journal)
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