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The official name of this gene is “B-cell CLL/lymphoma 9.”
BCL9 is the gene's official symbol. The BCL9 gene is also known by other names, listed below.
BCL9 is associated with B-cell acute lymphoblastic leukemia. It may be a target of translocation in B-cell malignancies with abnormalities of 1q21. Its function is unknown. The overexpression of BCL9 may be of pathogenic significance in B-cell malignancies. [provided by RefSeq, Jul 2008]
Involved in signal transduction through the Wnt pathway. Promotes beta-catenin's transcriptional activity.
NOTE: UniProt (http://www.uniprot.org/uniprot/O00512) suggests using caution when interpreting this information.
Note=A chromosomal aberration involving BCL9 is found in a patient with precusor B-cell acute lymphoblastic leukemia (ALL). Translocation t(1;14)(q21;q32). This translocation leaves the coding region intact, but may have pathogenic effects due to alterations in the expression level of BCL9. Several cases of translocations within the 3'-UTR of BCL9 have been found in B-cell malignancies.
|602597 (http://omim.org/entry/602597)||B-CELL CLL/LYMPHOMA 9|
Cytogenetic Location: 1q21
Molecular Location on chromosome 1: base pairs 147,013,181 to 147,098,016
The BCL9 gene is located on the long (q) arm of chromosome 1 at position 21.
More precisely, the BCL9 gene is located from base pair 147,013,181 to base pair 147,098,016 on chromosome 1.
See How do geneticists indicate the location of a gene? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genelocation) in the Handbook.
You may also be interested in these resources, which are designed for genetics professionals and researchers.
See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.
acute ; acute lymphoblastic leukemia ; cell ; coding region ; leukemia ; signal transduction ; transduction ; translocation
You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://ghr.nlm.nih.gov/glossary).
The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.