1ji7: Difference between revisions
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{{STRUCTURE_1ji7| PDB=1ji7 | SCENE= }} | {{STRUCTURE_1ji7| PDB=1ji7 | SCENE= }} | ||
===Crystal Structure of TEL SAM Polymer=== | |||
{{ABSTRACT_PUBMED_11483520}} | |||
=== | ==Disease== | ||
[[http://www.uniprot.org/uniprot/ETV6_HUMAN ETV6_HUMAN]] Note=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).<ref>PMID:12203785</ref> Note=Chromosomal aberrations involving ETV6 are found in a form of acute myeloid leukemia (AML). Translocation t(12;22)(p13;q11) with MN1; translocation t(4;12)(q12;p13) with CHIC2.<ref>PMID:7761424</ref><ref>PMID:7780150</ref><ref>PMID:15806161</ref> Note=Chromosomal aberrations involving ETV6 are found in childhood acute lymphoblastic leukemia (ALL). Translocations t(12;21)(p12;q22) and t(12;21)(p13;q22) with RUNX1/AML1. Note=A chromosomal aberration involving ETV6 is found in a form of pre-B acute myeloid leukemia. Translocation t(9;12)(p24;p13) with JAK2. Note=A chromosomal aberration involving ETV6 is found in myelodysplastic syndrome (MDS) with basophilia. Translocation t(5;12)(q31;p13) with ACSL6. Note=A chromosomal aberration involving ETV6 is found in acute eosinophilic leukemia (AEL). Translocation t(5;12)(q31;p13) with ACSL6. Note=A chromosomal aberration involving ETV6 is found in myelodysplastic syndrome (MDS). Translocation t(1;12)(p36.1;p13) with MDS2. Defects in ETV6 are a cause of myeloproliferative disorder chronic with eosinophilia (MPE) [MIM:[http://omim.org/entry/131440 131440]]. A hematologic disorder characterized by malignant eosinophils proliferation. Note=A chromosomal aberration involving ETV6 is found in many instances of myeloproliferative disorder chronic with eosinophilia. Translocation t(5;12) with PDGFRB on chromosome 5 creating an ETV6-PDGFRB fusion protein. Defects in ETV6 are a cause of acute myelogenous leukemia (AML) [MIM:[http://omim.org/entry/601626 601626]]. AML is a malignant disease in which hematopoietic precursors are arrested in an early stage of development.<ref>PMID:7761424</ref><ref>PMID:7780150</ref><ref>PMID:15806161</ref> Note=A chromosomal aberration involving ETV6 is found in acute lymphoblastic leukemia. Translocation t(9;12)(p13;p13) with PAX5. | |||
==Function== | |||
[[http://www.uniprot.org/uniprot/ETV6_HUMAN ETV6_HUMAN]] Transcriptional repressor; binds to the DNA sequence 5'-CCGGAAGT-3'. | |||
==About this Structure== | ==About this Structure== | ||
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==Reference== | ==Reference== | ||
<ref group="xtra">PMID:011483520</ref><ref group="xtra">PMID:012527302</ref><references group="xtra"/> | <ref group="xtra">PMID:011483520</ref><ref group="xtra">PMID:012527302</ref><references group="xtra"/><references/> | ||
[[Category: Homo sapiens]] | [[Category: Homo sapiens]] | ||
[[Category: Bowie, J U.]] | [[Category: Bowie, J U.]] | ||
