Species Human Entrez 26040 | Human Mouse Ensembl ENSG00000152217 | |
Aliases SETBP1, SET binding protein 1, SEB, MRD29, SET bindign protein 1 External IDs MGI: 1933199 HomoloGene: 9192 GeneCards: SETBP1 | ||
Gene music using protein sequence of setbp1 set binding protein 1
SET binding protein 1 is a protein that in humans is encoded by the SETBP1 gene.
Contents
Setbp1 as a novel candidate gene for neurodevelopmental disorders of speech and language
Gene
The gene is located on Chromosome 18, specifically on the long (q) arm of the chromosome at position 21.1.
Function
The SETBP1 gene provides instructions for making a protein known as the SET binding protein 1, which is widely distributed throughout somatic cells. The protein is known to bind to another protein called SET; however the function of the SETBP1 protein and the effect of SET binding are unknown.
Clinical significance
Mutations in the SETBP1 gene are associated with Schinzel–Giedion syndrome.
SETBP1 is a oncogene; specific somatic mutations of this gene were discovered in patients affected by atypical Chronic Myeloid Leukemia (aCML) and related diseases. These mutations, which are identical to the ones present in SGS as germ line mutations, impair the degradation of SETBP1 and therefore cause increased cellular levels of the protein.