BCR gene
From Wikipedia, the free encyclopedia
Breakpoint cluster region
|
||||||||||||||
PDB rendering based on 1k1f. | ||||||||||||||
Available structures: 1k1f | ||||||||||||||
Identifiers | ||||||||||||||
Symbol(s) | BCR; ALL; BCR/FGFR1; BCR1; CML; D22S11; D22S662; FGFR1/BCR; FLJ16453; PHL | |||||||||||||
External IDs | OMIM: 151410 MGI: 88141 HomoloGene: 3192 | |||||||||||||
|
||||||||||||||
Orthologs | ||||||||||||||
Human | Mouse | |||||||||||||
Entrez | 613 | 110279 | ||||||||||||
Ensembl | n/a | ENSMUSG00000009681 | ||||||||||||
Refseq | NM_004327 (mRNA) NP_004318 (protein) |
XM_898043 (mRNA) XP_903136 (protein) |
||||||||||||
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.
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]
Contents |
[edit] See also
[edit] External links
[edit] References
[edit] 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.