This gene encodes a nuclear protein with three C2H2-type zinc fingers, and functions as a transcriptional repressor. Chromosomal aberrations involving this gene are associated with endometrial stromal tumors. Alternatively spliced variants which encode different protein isoforms have been described; however, not all variants have been fully characterized [provided by RefSeq, Jul 2008]
Function:
Potential transcription factor.
Subunit:
Interacts with TAK1.
DISEASE:
Note=A chromosomal aberration involving JAZF1 may be a cause of endometrial stromal tumors. Translocation t(7;17)(p15;q21) with SUZ12. The translocation generates the JAZF1-SUZ12 oncogene consisting of the N-terminus part of JAZF1 and the SLCterminus part of SUZ12. It is frequently found in all cases of endometrial stromal tumors, except in endometrial stromal sarcomas, where it is rarer. Translocation t(6;7)(p21;p22) with PHF1.
Similarity:
Contains 3 C2H2-type zinc fingers.
SWISS:
Q86VZ6
Gene ID:
221895
Database links:
Entrez Gene: 221895 Human
Entrez Gene: 231986 Mouse
Entrez Gene: 685879 Rat
Omim: 606246 Human
SwissProt: Q86VZ6 Human
SwissProt: Q80ZQ5 Mouse
SwissProt: Q5RDF5 Orangutan
Unigene: 368944 Human
Unigene: 386865 Mouse
II型糖尿病是危害很大的疾病，科学家们最近又鉴定出了6个参与II型糖尿病有关的基因。其中JAZF1基因同时在II型糖尿病和前列腺癌中都起作用，但糖尿病和前列腺癌的变异处于基因的不同位置。这些研究将会帮助我们揭示复杂的糖尿病基础，提示治疗和预防这个疾病的更好新方法。
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Paraformaldehyde-fixed, paraffin embedded (Mouse testis); Antigen retrieval by boiling in sodium citrate buffer (pH6.0) for 15min; Block endogenous peroxidase by 3% hydrogen peroxide for 20 minutes; Blocking buffer (normal goat serum) at 37°C for 30min; Antibody incubation with (JAZF1) Polyclonal Antibody, Unconjugated (SL10308R) at 1:400 overnight at 4°C, followed by operating according to SP Kit(Rabbit) (sp-0023) instructionsand DAB staining.
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