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Antibody detects endogenous levels of total SETBP1.
This gene encodes a protein which contains a several motifs including a ski homology region and a SET-binding region in addition to three nuclear localization signals. The encoded protein has been shown to bind the SET nuclear oncogene which is involved in DNA replication. Mutations in this gene are associated with Schinzel-Giedion midface retraction syndrome. Multiple transcript variants encoding different isoforms have been found for this gene.
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Protein Aliases: SEB; SET binding protein 1; SET-binding protein
Gene Aliases: C130092E12; KIAA0437; mKIAA0437; MRD29; SEB; SETBP1
UniProt ID: (Human) Q9Y6X0, (Mouse) Q9Z180
Entrez Gene ID: (Human) 26040, (Rat) 291423, (Mouse) 240427
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