BCR - Breakpoint cluster region protein - human protein (Medical)
 
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BCR »  Breakpoint cluster region protein   [ EC 2.7.11.1 ]
 
Protein also known as:  Renal carcinoma antigen NY-REN-26.
Gene name:  BCR
Entry whose protein(s) existence is based on evidence at protein level
extend overview
1 352 2
GENE REF ISO

Displayed isoform: Iso 1     

 
 

Medical

 show evidences
Disease 
Leukemia, chronic myeloid (CML) [MIM:608232]: A clonal myeloproliferative disorder of a pluripotent stem cell with a specific cytogenetic abnormality, the Philadelphia chromosome (Ph), involving myeloid, erythroid, megakaryocytic, B-lymphoid, and sometimes T-lymphoid cells, but not marrow fibroblasts. The gene represented in this entry is involved in disease pathogenesis.  
  • CuratedUniProtKB
A chromosomal aberration involving BCR has been found in patients with chronic myeloid leukemia. Translocation t(9;22)(q34;q11) with ABL1. The translocation produces a BCR-ABL found also in acute myeloid leukemia (AML) and acute lymphoblastic leukemia (ALL).  
  • CuratedUniProtKB
According to Orphanet, this protein is involved in the following diseases:
Chronic myeloid leukemia  521  
Distal 22q11.2 microdeletion syndrome  261330  
Precursor B-cell acute lymphoblastic leukemia  99860  
Precursor T-cell acute lymphoblastic leukemia  99861  
 

Keywords

Disease 
Proto-oncogene  definition   [KW-0656]
Technical term 
Reference proteome  definition   [KW-1185]
 

Further external links

Organism-specific databases
CTD: 613
MIM: 608232
PharmGKB: PA25321
Polymorphism databases
DMDM: 143811366
Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.