Recombinant Human SET-binding protein (SETBP1), Truncated

Uniprot Id

Q9Y6X0

Target Species

Human

Target Name

SETBP1

Target Full Name

SET-binding protein

Target Involvement

Schinzel-Giedion midface retraction syndrome (SGMFS); Myelodysplastic syndrome (MDS); Mental retardation, autosomal dominant 29 (MRD29); Leukemia, acute myelogenous (AML); Leukemia, chronic myeloid, atypical (ACML); Leukemia, juvenile myelomonocytic (JMML)

Target Subcellular Location

Nucleus.

Target Tissue Specificity

Expressed in numerous tissues. Expressed at low levels in myeloid and monocytic cells as well as in CD34+ cells; expression levels are higher in myeloid malignancies.

Target Synonyms

SEB; SET binding protein 1; SET-binding protein; SETBP 1; SETBP_HUMAN; Setbp1

Target Background

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.