SET binding protein 1 is a
protein
Proteins are large biomolecules and macromolecules that comprise one or more long chains of amino acid residues. Proteins perform a vast array of functions within organisms, including catalysing metabolic reactions, DNA replication, respo ...
that in humans is encoded by the SETBP1
gene
In biology, the word gene (from , ; "...Wilhelm Johannsen coined the word gene to describe the Mendelian units of heredity..." meaning ''generation'' or ''birth'' or ''gender'') can have several different meanings. The Mendelian gene is a ba ...
.
Gene
The gene is located on Chromosome 18, specifically on the long (q) arm of the chromosome at position 12.3. This is also written as 18q12.3.
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. SETBP1 is a DNA-binding protein that forms part of a group of proteins that act together on histone methylation to make chromatin more accessible and regulate gene expression. There is still more to learn about the overall function of the SETBP1 protein
and the effect of SET binding.
Clinical significance
Gain-of-function mutations in the SETBP1 gene are associated with
Schinzel–Giedion syndrome.
Loss-of-function mutations in the SETBP1 gene are associated with a SETBP1-related developmental delay called SETBP1 disorder which causes a spectrum of symptoms including absent speech/expressive language delays, mild-severe intellectual disability, autistic-traits/autism, developmental delays, ADHD, and seizures.
SETBP1 is an
oncogene
An oncogene is a gene that has the potential to cause cancer. In tumor cells, these genes are often mutated, or expressed at high levels. ; 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
In biology and genetics, the germline is the population of a multicellular organism's cells that pass on their genetic material to the progeny (offspring). In other words, they are the cells that form the egg, sperm and the fertilised egg. They ...
mutations, impair the degradation of SETBP1 and therefore cause increased cellular levels of the protein.
References
Further reading
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External links
OMIM entry on Schinzel-Giedion Midface Retraction Syndrome
SETBP1 Society - Non-profit providing support to individuals with SETBP1 disorder and their families, to promote discussion and fund research, and to bring awareness and education to the public.
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