Product Information
Molecular Weight53000 DaObserved Band:53 KD
Protein NameTranscription factor ETV6
Human Gene Id2120
Human Swiss Prot NoP41212
Mouse Gene Id14011
Mouse Swiss Prot NoP97360
SpecificityTEL Polyclonal Antibody detects endogenous levels of TEL protein.
FormulationLiquid in PBS containing 50% glycerol, 0.5% BSA and 0.02% sodium azide.
Concentration1 mg/ml
Storage Stability-20°C/1 year
Other NameETV6; TEL; TEL1; Transcription factor ETV6; ETS translocation variant 6; ETS-related protein Tel1; Tel
Functiondisease:A chromosomal aberration involving ETV6 is a cause in many instances of chronic myeloproliferative disorder with eosinophilia (MPE) [MIM:131440]. Translocation t(5;12) with PDGFRB on chromosome 5 creating an ETV6-PDGFRB fusion protein.,disease:A chromosomal aberration involving ETV6 is a cause of acute lymphoblastic leukemia. Translocation t(9;12)(p13;p13) with PAX5.,disease:A chromosomal aberration involving ETV6 is a cause of myelodysplastic syndrome (MDS). Translocation t(1;12)(p36.1;p13) with MDS2.,disease:A chromosomal aberration involving ETV6 is found in a form of chronic myelomonocytic leukemia (CMML). Translocation t(5;12)(q33;p13) with PDGFRB. It is characterized by abnormal clonal myeloid proliferation and by progression to acute myelogenous leukemia (AML).,disease:A chromosomal aberration involving ETV6 is found in a form of pre-B acute myeloid leukemia. Translocation
Subcellular Locationnucleus,nucleolus,cytoplasm,integral component of membrane,
ExpressionBone marrow,Testis,
BackgroundETS variant 6(ETV6) Homo sapiens This gene encodes an ETS family transcription factor. The product of this gene contains two functional domains:a N-terminal pointed (PNT) domain that is involved in protein-protein interactions with itself and other proteins, and a C-terminal DNA-binding domain. Gene knockout studies in mice suggest that it is required for hematopoiesis and maintenance of the developing vascular network. This gene is known to be involved in a large number of chromosomal rearrangements associated with leukemia and congenital fibrosarcoma. [provided by RefSeq, Sep 2008],