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SLC13A5
Solute carrier family 13 (sodium-dependent citrate transporter), member 5 also known as the Na+/citrate cotransporter or mIndy is a protein that in humans is encoded by the SLC13A5 gene. It is the mammalian homolog of the fly Indy gene. Function SLC13A5 is a tricarboxylate plasma transporter with a preference for citrate. Clinical significance In 2014, by means of exome sequencing it was determined that a genetic mutation of the SLC13A5 gene is the cause of a rare citrate transporter disorder. Mutations in SLC13A5 cause autosomal recessive epileptic encephalopathy with seizure onset in the first days of life. Those afflicted suffer from seizures, global developmental delay, movement disorder and hypotonia. Reduced expression of this gene is associated with longer lifespan in many organisms, including some non-human primates. Increased expression is associated with type 2 diabetes and non-alcoholic fatty liver disease. A sugary diet upregulates the expression of the gene, a ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
SLC13A5 Citrate Transporter Disorder
SLC13A5 citrate transporter disorder is a rare neurological disease, also known as SLC13A5 epilepsy and by other names. It is a spectrum disorder, discovered in 2014. It is one of the many subtypes of Ohtahara syndrome (early infantile epileptic encephalopathy or EIEE) that have been linked to metabolic causes. Genetic basis Mutation in the SLC13A5 gene can cause neonatal seizures in the first few days of life. This condition is known as early infantile epileptic encephalopathy 25. The protein encoded by the gene belongs to a solute carrier family, numbered as 13. It was discovered in 2002 that it binds preferentially to and transports citrate anions. It is known as Na+-coupled citrate transporter (NaCT), and is also referred to by the gene name SLC13A5. Citrate deficiency The disorder is caused by loss of function mutations in the SLC13A5 gene, with impact on citrate transport into cells. Patients typically suffer seizures in the first week of life, and develop a form of drug-res ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Indy (gene)
Indy, short for I'm not dead yet, is a gene found in the fruit fly ''Drosophila melanogaster'', an important model organism. Mutant versions of this gene have doubled the average life span of fruit flies in at least one set of experiments, but this result has been subject to controversy. Both Indy proteins are sodium sulfate symporters. Its name originates from a well-known comic line in '' Monty Python and the Holy Grail''. Reduced expression of this gene in ''Drosophila melanogaster'' flies and ''C. elegans'' worms () modeled the effects on obesity and diabetes of caloric reduction in primates such as humans. A similar effect was seen with SLC13A5 (mIndy) knockouts of mice. See also *Cellular biology References External links Indyat FlyBase FlyBase is an online bioinformatics database and the primary repository of genetic and molecular data for the insect family Drosophilidae. For the most extensively studied species and model organism, ''Drosophila melanogaster ... [...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] |
Tricarboxylic Acid
A tricarboxylic acid is an organic carboxylic acid whose chemical structure contains three carboxyl functional groups (-COOH). The best-known example of a tricarboxylic acid is citric acid. Uses Citric acid cycle Citric acid, a type of tricarboxylic acid, is used in the citric acid cycle – also known as tricarboxylic acid (TCA) cycle or Krebs cycle – which is fundamental to all aerobic organisms. Examples See also * Citric acid cycle (tricarboxylic acid cycle) * Dicarboxylic acid * Mellitic acid Mellitic acid, also called graphitic acid or benzenehexacarboxylic acid, is an acid first discovered in 1799 by Martin Heinrich Klaproth in the mineral mellite (honeystone), which is the aluminium salt of the acid. It crystallizes in fine silky ne ... Literature *{{cite journal , title = The Tricarboxylic Acid Cycle, an Ancient Metabolic Network with a Novel Twist. , author = Ryan J. Mailloux, Robin Bériault, Joseph Lemire, Ranji Singh, Daniel R. Chénier, Robert D. Hamel, ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Citrate
Citric acid is an organic compound with the chemical formula HOC(CO2H)(CH2CO2H)2. It is a colorless weak organic acid. It occurs naturally in citrus fruits. In biochemistry, it is an intermediate in the citric acid cycle, which occurs in the metabolism of all aerobic organisms. More than two million tons of citric acid are manufactured every year. It is used widely as an acidifier, as a flavoring, and a chelating agent. A citrate is a derivative of citric acid; that is, the salts, esters, and the polyatomic anion found in solution. An example of the former, a salt is trisodium citrate; an ester is triethyl citrate. When part of a salt, the formula of the citrate anion is written as or . Natural occurrence and industrial production Citric acid occurs in a variety of fruits and vegetables, most notably citrus fruits. Lemons and limes have particularly high concentrations of the acid; it can constitute as much as 8% of the dry weight of these fruits (about 47 g/L in ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Exome Sequencing
Exome sequencing, also known as whole exome sequencing (WES), is a genomic technique for sequencing all of the protein-coding regions of genes in a genome (known as the exome). It consists of two steps: the first step is to select only the subset of DNA that encodes proteins. These regions are known as exons—humans have about 180,000 exons, constituting about 1% of the human genome, or approximately 30 million base pairs. The second step is to sequence the exonic DNA using any high-throughput DNA sequencing technology. The goal of this approach is to identify genetic variants that alter protein sequences, and to do this at a much lower cost than whole-genome sequencing. Since these variants can be responsible for both Mendelian and common polygenic diseases, such as Alzheimer's disease, whole exome sequencing has been applied both in academic research and as a clinical diagnostic. Motivation and comparison to other approaches Exome sequencing is especially effective in the ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Autosomal Recessive
In genetics, dominance is the phenomenon of one variant (allele) of a gene on a chromosome masking or overriding the effect of a different variant of the same gene on the other copy of the chromosome. The first variant is termed dominant and the second recessive. This state of having two different variants of the same gene on each chromosome is originally caused by a mutation in one of the genes, either new (''de novo'') or inherited. The terms autosomal dominant or autosomal recessive are used to describe gene variants on non-sex chromosomes ( autosomes) and their associated traits, while those on sex chromosomes (allosomes) are termed X-linked dominant, X-linked recessive or Y-linked; these have an inheritance and presentation pattern that depends on the sex of both the parent and the child (see Sex linkage). Since there is only one copy of the Y chromosome, Y-linked traits cannot be dominant or recessive. Additionally, there are other forms of dominance such as incomplete d ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Interleukin 6
Interleukin 6 (IL-6) is an interleukin that acts as both a pro-inflammatory cytokine and an anti-inflammatory myokine. In humans, it is encoded by the ''IL6'' gene. In addition, osteoblasts secrete IL-6 to stimulate osteoclast formation. Smooth muscle cells in the tunica media of many blood vessels also produce IL-6 as a pro-inflammatory cytokine. IL-6's role as an anti-inflammatory myokine is mediated through its inhibitory effects on TNF-alpha and IL-1 and its activation of IL-1ra and IL-10. There is some early evidence that IL-6 can be used as an inflammatory marker for severe COVID-19 infection with poor prognosis, in the context of the wider coronavirus pandemic. Function Immune system IL-6 is secreted by macrophages in response to specific microbial molecules, referred to as pathogen-associated molecular patterns ( PAMPs). These PAMPs bind to an important group of detection molecules of the innate immune system, called pattern recognition receptors (PRRs), incl ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
