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Rabbit Anti-SETBP1/FITC Conjugated antibody
background:
SETBP1 (SET binding protein 1), also known as SEB, is a 1,542 amino acid nuclear protein that contains three AT hook DNA-binding domains, one SKI homology region and a SLCterminal SET-binding domain, which is followed by three PPLPPPPP repeats. SETBP1 may be involved in SET-related tumorigenesis and leukemogenesis by regulating the transforming activity of SKI in the nucleus or suppressing SET function. As a widely expressed protein, SETBP1 is encoded by a gene that maps to human chromosome 18, which houses over 300 protein-coding genes and contains nearly 76 million bases. There are a variety of diseases associated with defects in chromosome 18-localized genes, some of which include Trisomy 18 (also known as Edwards syndrome), Niemann-Pick disease, hereditary hemorrhagic telangiectasia, erythropoietic protoporphyria and follicular lymphomas.
Subunit:
Interacts with SET.
Subcellular Location:
Nucleus.
Tissue Specificity:
Expressed in numerous tissues.
DISEASE:
Defects in SETBP1 are the cause of Schinzel-Giedion midface retraction syndrome (SGMFS) [MIM:269150]. It is a disorder characterized by severe mental retardation, distinctive facial features, and multiple congenital malformations including skeletal abnormalities, genitourinary and renal malformations, cardiac defects, as well as a higher-than-normal prevalence of tumors, notably neuroepithelial neoplasia.
Similarity:
Contains 3 A.T hook DNA-binding domains.
Database links:
Entrez Gene: 26040 Human
Entrez Gene: 48427 Mouse
Entrez Gene: 291423 Rat
Omim: 611060 Human
SwissProt: Q9Y6X0 Human
SwissProt: Q9Z36 Mouse
Unigene: 435458 Human
Unigene: 312871 Mouse
Important Note:
This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
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