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SLC20A2
Sodium-dependent phosphate transporter 2 is a protein that in humans is encoded by the ''SLC20A2'' gene. Genomics This gene is found on the short arm of chromosome 8 (8p12-p11) on the minus (Crick) strand. It is 123,077 bases in length. The encoded protein has 652 amino acids and the predicted molecular weight of the protein is 70.392 kiloDaltons. Function The protein acts as a homodimer and is involved in phosphate transport by absorbing phosphate from interstitial fluid for normal cellular functions such as cellular metabolism, signal transduction, and nucleic acid and lipid synthesis. Clinical significance Mutations in the SLC20A2 gene are associated with idiopathic basal ganglia calcification (Fahr's syndrome). This association suggests that familial idiopathic basal ganglia calcification is caused by changes in phosphate homeostasis, since this gene encodes for PIT-2, an inorganic phosphate transporter. See also * Solute carrier family References Further reading [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Fahr's Syndrome
Primary Indiana familial brain calcification Initial Posting: April 18, 2004; Last Update: August 24, 2017. (PFBC), also known as familial idiopathic basal ganglia calcification (FIBGC) and Fahr's disease, is a rare, genetically dominant, inherited neurological disorder characterized by abnormal deposits of calcium in areas of the brain that control movement. Through the use of CT scans, calcifications are seen primarily in the basal ganglia and in other areas such as the cerebral cortex. Signs and symptoms Symptoms of this disease include deterioration of motor functions and speech, seizures, and other involuntary movement. Other symptoms are headaches, dementia, and vision impairment. Characteristics of Parkinson's Disease are also similar to PFBC. The disease usually manifests itself in the third to fifth decade of life but may appear in childhood or later in life.Sobrido MJ, Hopfer S, Geschwind DH (2007)Familial idiopathic basal ganglia calcification" In: Pagon RA, Bird TD ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Chromosome 8
Chromosome 8 is one of the 23 pairs of chromosomes in humans. People normally have two copies of this chromosome. Chromosome 8 spans about 145 million base pairs (the building material of DNA) and represents between 4.5 and 5.0% of the total DNA in cells. About 8% of its genes are involved in brain development and function, and about 16% are involved in cancer. A unique feature of 8p is a region of about 15 megabases that appears to have a high mutation rate. This region shows a significant divergence between human and chimpanzee, suggesting that its high mutation rates have contributed to the evolution of the human brain. __TOC__ Genes Number of genes The following are some of the gene count estimates of human chromosome 8. Because researchers use different approaches to genome annotation their predictions of the number of genes on each chromosome varies (for technical details, see gene prediction). Among various projects, the collaborative consensus coding sequence project ... [...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] |
