BCR gene
Breakpoint cluster region | |||||||||||||
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PDB rendering based on 1k1f. | |||||||||||||
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Identifiers | |||||||||||||
Symbols | BCR ; ALL; BCR/FGFR1; BCR1; CML; D22S11; D22S662; FGFR1/BCR; FLJ16453; PHL | ||||||||||||
External IDs | Template:OMIM5 Template:MGI HomoloGene: 3192 | ||||||||||||
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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
- BCR+protein,+human at the US National Library of Medicine Medical Subject Headings (MeSH)
References
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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