SETBP1 gene

SET binding protein 1

The SETBP1 gene provides instructions for making a protein called SET binding protein 1 (SETBP1), which is found in cells throughout the body. The SETBP1 protein is known to attach (bind) to another protein called SET. However, the function of the SETBP1 protein and the effect of its binding to the SET protein are unknown.

At least five mutations in the SETBP1 gene have been identified in children with Schinzel-Giedion syndrome, a severe condition apparent at birth that is characterized by distinctive facial features and abnormalities in many body systems. The gene mutations in affected individuals cluster in one region of the gene known as exon 4. However, the effects of the mutations on the function of the gene or the protein are unknown. Researchers are working to understand how mutations in the SETBP1 gene cause the signs and symptoms of Schinzel-Giedion syndrome.

Cytogenetic Location: 18q21.1, which is the long (q) arm of chromosome 18 at position 21.1

Molecular Location: base pairs 44,680,173 to 45,068,510 on chromosome 18 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 18q21.1, which is the long (q) arm of chromosome 18 at position 21.1
  • KIAA0437
  • SEB
  • SET-binding protein
  • SET-binding protein isoform a
  • SET-binding protein isoform b
  • SETBP_HUMAN