Aliases for SETBP1 Gene
External Ids for SETBP1 Gene
Previous GeneCards Identifiers for SETBP1 Gene
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. [provided by RefSeq, Aug 2011]
GeneCards Summary for SETBP1 Gene
SETBP1 (SET Binding Protein 1) is a Protein Coding gene. Diseases associated with SETBP1 include schinzel-giedion midface retraction syndrome and mental retardation, autosomal dominant 29. An important paralog of this gene is EHMT1.