BCR gene

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Breakpoint cluster region
PDB rendering based on 1k1f.
Available structures
PDB Ortholog search: Template:Homologene2PDBe PDBe, Template:Homologene2uniprot RCSB
Identifiers
Symbols BCR ; ALL; BCR/FGFR1; BCR1; CML; D22S11; D22S662; FGFR1/BCR; FLJ16453; PHL
External IDs Template:OMIM5 Template:MGI HomoloGene3192
Orthologs
Template:GNF Ortholog box
Species Human Mouse
Entrez n/a n/a
Ensembl n/a n/a
UniProt n/a n/a
RefSeq (mRNA) n/a n/a
RefSeq (protein) n/a n/a
Location (UCSC) n/a n/a
PubMed search n/a n/a

The BCR gene is one of the two genes in the bcr-abl complex, which is associated with the Philadelphia chromosome.

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.[1]

See also

External links


References

  1. "Entrez Gene: BCR breakpoint cluster region".

Further reading

  • Wang L, Seale J, Woodcock BE, Clark RE (2002). "e19a2-positive chronic myeloid leukaemia with BCR exon e16-deleted transcripts". Leukemia. 16 (8): 1562–3. doi:10.1038/sj.leu.2402600. PMID 12145699.

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