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SETBP1
SET binding protein 1 is a protein that in humans is encoded by the SETBP1 gene. 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 cause ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Schinzel–Giedion Syndrome
Schinzel–Giedion syndrome (SGS) is a congenital neurodegenerative terminal syndrome. It was first described in 1978 by Albert Schinzel (1944–) and Andreas Giedion (1925–) as a syndrome with severe midface retraction, skull anomalies, renal anomalies (hydronephrosis) and other anomalies. Babies born with Schinzel–Giedion syndrome have severe mental retardation, growth retardation (unless fed through a feeding tube) and global developmental delay. Diagnosis Genetic testing for mutations in ''SETBP1'' gene can confirm a diagnosis. Symptoms Patients with this can have hydronephrosis, seizures, visual impairments, or alacrima. Sleep apnea may also be present, Prognosis Most children with condition die before 2 years of age. With it being estimated that 50% will die before 2 years of age. Death during infancy is due to pneumonia, cardiac arrest, tumors, lung hypoplasia, or seizures. The longest documented survivor is 15 years old. Children with this condition who s ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
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, responding to stimuli, providing structure to cells and organisms, and transporting molecules from one location to another. Proteins differ from one another primarily in their sequence of amino acids, which is dictated by the nucleotide sequence of their genes, and which usually results in protein folding into a specific 3D structure that determines its activity. A linear chain of amino acid residues is called a polypeptide. A protein contains at least one long polypeptide. Short polypeptides, containing less than 20–30 residues, are rarely considered to be proteins and are commonly called peptides. The individual amino acid residues are bonded together by peptide bonds and adjacent amino acid residues. The sequence of amino acid residue ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
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 basic unit of heredity and the molecular gene is a sequence of nucleotides in DNA that is transcribed to produce a functional RNA. There are two types of molecular genes: protein-coding genes and noncoding genes. During gene expression, the DNA is first copied into RNA. The RNA can be directly functional or be the intermediate template for a protein that performs a function. The transmission of genes to an organism's offspring is the basis of the inheritance of phenotypic traits. These genes make up different DNA sequences called genotypes. Genotypes along with environmental and developmental factors determine what the phenotypes will be. Most biological traits are under the influence of polygenes (many different genes) as well as gen ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
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.Kimball's Biology Pages. "Oncogenes" Free full text Most normal cells will undergo a programmed form of rapid cell death () when critical functions are altered and malfunctioning. Activated oncogenes can cause those cells designated for apoptosis to survive and proliferate instead. Most oncogenes began as proto-oncogenes: normal genes involved in cell growth and proliferation or inhibition of apoptosis. If, through mutation, normal genes promoting cellular growth are up-regulated (gain-of-function mutation), they will predisp ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
ACML
AMD Core Math Library (ACML) is an end-of-life software development library released by AMD. This library provides mathematical routines optimized for AMD processors. The successor to ACML is the AMD Optimizing CPU Libraries (AOCL), a set of mostly open source libraries compiled for AMD64 processors. It includes the open source BLIS, libFLAME, ScaLAPACK, FFTW, and AOCL-Sparse, plus the original closed-source AMD LibM, memcpy, and RNG. Features ACML consists of the following main components: * A full implementation of Level 1, 2 and 3 Basic Linear Algebra Subprograms (BLAS), with optimizations for AMD Opteron processors. * A full suite of Linear Algebra (LAPACK) routines. * A comprehensive suite of Fast Fourier transform (FFTs) in single-, double-, single-complex and double-complex data types. * Fast scalar, vector, and array math transcendental library routines * Random Number Generators in both single- and double-precision Supported platforms AMD offers pre-compiled binaries fo ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
