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SETBP1 / SEB 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.
Gene Name: | SET binding protein 1 |
Synonyms: | SETBP1, KIAA0437, SET binding protein 1, SET-binding protein, SEB |
Target Sequences: | NM_015559 NP_056374.2 Q9Y6X0 |
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