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Gene : LOC107963948 Homo sapiens

Name  ? BCR-ABL micro-breakpoint cluster region Cytological Location  22q11.23
description  This region is known to undergo mitotic DNA recombination with another region, the ABL breakpoint region, located on the q arm of chromosome 9. Recombination between these two regions results in a translocation known as the t(9;22)(q34;q11) rearrangement, and can produce gene fusions involving the BCR, RhoGEF and GTPase activating protein (BCR) gene and the ABL proto-oncogene 1, non-receptor tyrosine kinase (ABL1) genes. Several different BCR-ABL gene fusions have been observed, resulting from recombination with different regions within BCR. The smaller derivative chromosome resulting from this translocation is commonly known as the Philadelphia (Ph) chromosome. Fusion transcripts of BCR-ABL as a result of recombination between these regions, results in a transcript known as the e19a2 transcripts, and produces a 230-kDa chimeric protein known as p230. The p230 protein has abnormal tyrosine kinase activity. The presence of this fusion gene has been observed in some individuals with neutrophilic chronic myelogenous leukemia (N-CML), as well as in individuals with chronic myelogenous leukemia (CML) and acute myeloid leukemia (AML). This recombination event occurs less frequently than that of other leukemias that contain the Philadelphia chromosome, namely those resulting from recombination with the major- and minor-breakpoint cluster regions. [provided by RefSeq, May 2016]
  • identifiers:
  • 107963948,
  • LOC107963948

Genome feature

Region: gene ?
Location: No location information in HumanMine Cyto location: 22q11.23


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