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Breakpoint cluster region
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| PDB rendering based on 1k1f. | ||||||||||||||
| Available structures: 1k1f | ||||||||||||||
| Identifiers | ||||||||||||||
| Symbols | BCR; ALL; BCR/FGFR1; BCR1; CML; D22S11; D22S662; FGFR1/BCR; FLJ16453; PHL | |||||||||||||
| External IDs | OMIM: 151410 MGI: 88141 HomoloGene: 3192 | |||||||||||||
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| Orthologs | ||||||||||||||
| Human | Mouse | |||||||||||||
| Entrez | 613 | 110279 | ||||||||||||
| Ensembl | n/a | ENSMUSG00000009681 | ||||||||||||
| Refseq | NM_004327 (mRNA) NP_004318 (protein) |
XM_898043 (mRNA) XP_903136 (protein) |
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| Location | n/a | Chr 10: 74.51 - 74.63 Mb | ||||||||||||
| Pubmed search | [1] | [2] | ||||||||||||
The BCR gene is one of the two genes in the bcr-abl complex, which is associated with the Philadelphia chromosome.
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Pathology
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
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:. PMID 12145699.
Wikipedia content modification information:
- This page was last modified on 23 July 2008, at 07:38.
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