BCR (gene)

The BCR gene, also known as Breakpoint Cluster Region gene, is a gene that is located on chromosome 22 in humans. This gene is known for its significant role in the development of certain types of cancer, particularly chronic myeloid leukemia (CML) and acute lymphoblastic leukemia (ALL).

Function

The BCR gene encodes a protein that is involved in regulating cell growth and division. This protein also plays a role in the transmission of signals from the cell surface to the cytoplasm and nucleus, which can influence the cell's response to its environment.

Role in Disease

The BCR gene is most notably associated with the development of certain types of leukemia. This is due to a genetic mutation known as the Philadelphia chromosome, which is a translocation between chromosomes 9 and 22. This translocation results in the fusion of the BCR gene on chromosome 22 with the ABL1 gene on chromosome 9, creating a new gene known as BCR-ABL1. This fusion gene produces a protein with abnormal tyrosine kinase activity, which can lead to uncontrolled cell growth and the development of leukemia.

Diagnosis and Treatment

The presence of the BCR-ABL1 fusion gene can be detected through various diagnostic tests, including fluorescence in situ hybridization (FISH) and polymerase chain reaction (PCR). The detection of this fusion gene is a key factor in the diagnosis of CML and ALL.

Treatment for these types of leukemia often involves the use of tyrosine kinase inhibitors (TKIs), which are drugs that can block the activity of the abnormal protein produced by the BCR-ABL1 fusion gene.

See Also

• Chronic myeloid leukemia
• Acute lymphoblastic leukemia
• Philadelphia chromosome
• ABL1

• PDB 1k1f EBI
  PDB 1k1f EBI
• 
  Schematic of the Philadelphia Chromosome