SLC26A6
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SLC26A6
Solute carrier family 26 member 6 is a protein that in humans is encoded by the ''SLC26A6'' gene. It is an anion-exchanger expressed in the apical membrane of the kidney proximal tubule, the apical membranes of the duct cells in the pancreas, and the villi of the duodenum. This gene belongs to the solute carrier 26 family, whose members encode anion transporter proteins. This particular family member encodes a protein involved in transporting chloride, oxalate, sulfate and bicarbonate. Several alternatively spliced transcript variants of this gene, encoding distinct isoforms, have been described, but the full-length nature of some of these variants has not been determined. Associated diseases Diseases associated with SLC26A6 include sialolithiasis and urolithiasis. See also * Solute carrier family The solute carrier (SLC) group of membrane transport proteins include over 400 members organized into 66 families. Most members of the SLC group are located in the cell membrane. T ...
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Solute Carrier Family
The solute carrier (SLC) group of membrane transport proteins include over 400 members organized into 66 families. Most members of the SLC group are located in the cell membrane. The SLC gene nomenclature system was originally proposed by the HUGO Gene Nomenclature Committee (HGNC) and is the basis for the official HGNC names of the genes that encode these transporters. A more general transmembrane transporter classification can be found in TCDB, TCDB database. Solutes that are transported by the various SLC group members are extremely diverse and include both charged and uncharged organic molecules as well as inorganic ions and the gas Ammonia transporter, ammonia. As is typical of integral membrane proteins, SLCs contain a number of hydrophobic transmembrane Alpha helix, alpha helices connected to each other by hydrophilic intra- and extra-cellular loops. Depending on the SLC, these transporters are functional as either monomers or obligate homo- or hetero-oligomers. Many SLC fam ...
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Protein
Proteins are large biomolecules and macromolecules that comprise one or more long chains of amino acid residue (biochemistry), residues. Proteins perform a vast array of functions within organisms, including Enzyme catalysis, catalysing metabolic reactions, DNA replication, Cell signaling, responding to stimuli, providing Cytoskeleton, structure to cells and Fibrous protein, organisms, and Intracellular transport, transporting molecules from one location to another. Proteins differ from one another primarily in their sequence of amino acids, which is dictated by the Nucleic acid sequence, nucleotide sequence of their genes, and which usually results in protein folding into a specific Protein structure, 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 pep ...
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Gene
In biology, the word gene has two meanings. The Mendelian gene is a basic unit of heredity. 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 non-coding genes. During gene expression (the synthesis of Gene product, RNA or protein from a gene), DNA is first transcription (biology), copied into RNA. RNA can be non-coding RNA, directly functional or be the intermediate protein biosynthesis, template for the synthesis of a protein. The transmission of genes to an organism's offspring, is the basis of the inheritance of phenotypic traits from one generation to the next. These genes make up different DNA sequences, together called a genotype, that is specific to every given individual, within the gene pool of the population (biology), population of a given species. The genotype, along with environmental and developmental factors, ultimately determines the phenotype ...
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Anion
An ion () is an atom or molecule with a net electrical charge. The charge of an electron is considered to be negative by convention and this charge is equal and opposite to the charge of a proton, which is considered to be positive by convention. The net charge of an ion is not zero because its total number of electrons is unequal to its total number of protons. A cation is a positively charged ion with fewer electrons than protons (e.g. K+ ( potassium ion)) while an anion is a negatively charged ion with more electrons than protons (e.g. Cl− ( chloride ion) and OH− ( hydroxide ion)). Opposite electric charges are pulled towards one another by electrostatic force, so cations and anions attract each other and readily form ionic compounds. Ions consisting of only a single atom are termed ''monatomic ions'', ''atomic ions'' or ''simple ions'', while ions consisting of two or more atoms are termed polyatomic ions or ''molecular ions''. If only a + or − is present, it indi ...
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Membrane Transport Protein
A membrane transport protein is a membrane protein involved in the movement of ions, small molecules, and macromolecules, such as another protein, across a biological membrane. Transport proteins are integral membrane proteins, integral transmembrane proteins; that is they exist permanently within and span the membrane across which they transport substances. The proteins may assist in the movement of substances by facilitated diffusion, active transport, osmosis, or reverse diffusion. The two main types of proteins involved in such transport are broadly categorized as either ''channels'' or ''carriers'' (a.k.a. transporters, or permeases). Examples of channel/carrier proteins include the GLUT1, GLUT 1 uniporter, sodium channels, and potassium channels. The Solute carrier family, solute carriers and atypical SLCs are secondary active or facilitative transporters in humans. Collectively membrane transporters and channels are known as the transportome. Transportomes govern cellular i ...
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Chloride
The term chloride refers to a compound or molecule that contains either a chlorine anion (), which is a negatively charged chlorine atom, or a non-charged chlorine atom covalently bonded to the rest of the molecule by a single bond (). The pronunciation of the word "chloride" is . Chloride salts such as sodium chloride are often soluble in water.Green, John, and Sadru Damji. "Chapter 3." ''Chemistry''. Camberwell, Vic.: IBID, 2001. Print. It is an essential electrolyte located in all body fluids responsible for maintaining acid/base balance, transmitting nerve impulses and regulating liquid flow in and out of cells. Other examples of ionic chlorides include potassium chloride (), calcium chloride (), and ammonium chloride (). Examples of covalent chlorides include methyl chloride (), carbon tetrachloride (), sulfuryl chloride (), and monochloramine (). Electronic properties A chloride ion (diameter 167  pm) is much larger than a chlorine atom (diameter 99 pm ...
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Oxalate
Oxalate (systematic IUPAC name: ethanedioate) is an anion with the chemical formula . This dianion is colorless. It occurs naturally, including in some foods. It forms a variety of salts, for example sodium oxalate (), and several esters such as dimethyl oxalate (). It is a conjugate base of oxalic acid. At neutral pH in aqueous solution, oxalic acid converts completely to oxalate. Relationship to oxalic acid The dissociation of protons from oxalic acid proceeds in a determined order; as for other polyprotic acids, loss of a single proton results in the monovalent hydrogenoxalate anion . A salt with this anion is sometimes called an acid oxalate, monobasic oxalate, or hydrogen oxalate. The equilibrium constant ( ''K''a) for loss of the first proton is ( p''K''a = 1.27). The loss of the second proton, which yields the oxalate ion, has an equilibrium constant of (p''K''a = 4.28). These values imply, in solutions with neutral pH, no oxalic acid and only t ...
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Sulfate
The sulfate or sulphate ion is a polyatomic anion with the empirical formula . Salts, acid derivatives, and peroxides of sulfate are widely used in industry. Sulfates occur widely in everyday life. Sulfates are salts of sulfuric acid and many are prepared from that acid. Spelling "Sulfate" is the spelling recommended by IUPAC, but "sulphate" was traditionally used in British English. Structure The sulfate anion consists of a central sulfur atom surrounded by four equivalent oxygen atoms in a tetrahedral arrangement. The symmetry of the isolated anion is the same as that of methane. The sulfur atom is in the +6 oxidation state while the four oxygen atoms are each in the −2 state. The sulfate ion carries an overall charge of −2 and it is the conjugate base of the bisulfate (or hydrogensulfate) ion, , which is in turn the conjugate base of , sulfuric acid. Organic sulfate esters, such as dimethyl sulfate, are covalent compounds and esters of sulfuric acid. The tetrahedral ...
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Bicarbonate
In inorganic chemistry, bicarbonate (IUPAC-recommended nomenclature: hydrogencarbonate) is an intermediate form in the deprotonation of carbonic acid. It is a polyatomic anion with the chemical formula . Bicarbonate serves a crucial biochemical role in the physiological pH buffering system. The term "bicarbonate" was coined in 1814 by the English chemist William Hyde Wollaston. The name lives on as a trivial name. Chemical properties The bicarbonate ion (hydrogencarbonate ion) is an anion with the empirical formula and a molecular mass of 61.01 daltons; it consists of one central carbon atom surrounded by three oxygen atoms in a trigonal planar arrangement, with a hydrogen atom attached to one of the oxygens. It is isoelectronic with nitric acid (). The bicarbonate ion carries a negative one formal charge and is an amphiprotic species which has both acidic and basic properties. It is both the conjugate base of carbonic acid (); and the conjugate acid of , t ...
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Transcription (genetics)
Transcription is the process of copying a segment of DNA into RNA for the purpose of gene expression. Some segments of DNA are transcribed into RNA molecules that can encode proteins, called messenger RNA (mRNA). Other segments of DNA are transcribed into RNA molecules called non-coding RNAs (ncRNAs). Both DNA and RNA are nucleic acids, which use base pairs of nucleotides as a complementary language. During transcription, a DNA sequence is read by an RNA polymerase, which produces a complementary, antiparallel RNA strand called a primary transcript. In virology, the term transcription is used when referring to mRNA synthesis from a viral RNA molecule. The genome of many RNA viruses is composed of negative-sense RNA which acts as a template for positive sense viral messenger RNA - a necessary step in the synthesis of viral proteins needed for viral replication. This process is catalyzed by a viral RNA dependent RNA polymerase. Background A DNA transcription unit encoding ...
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Isoforms
A protein isoform, or "protein variant", is a member of a set of highly similar proteins that originate from a single gene and are the result of genetic differences. While many perform the same or similar biological roles, some isoforms have unique functions. A set of protein isoforms may be formed from alternative splicings, variable promoter usage, or other post-transcriptional modifications of a single gene; post-translational modifications are generally not considered. (For that, see Proteoforms.) Through RNA splicing mechanisms, mRNA has the ability to select different protein-coding segments (exons) of a gene, or even different parts of exons from RNA to form different mRNA sequences. Each unique sequence produces a specific form of a protein. The discovery of isoforms could explain the discrepancy between the small number of protein coding regions of genes revealed by the human genome project and the large diversity of proteins seen in an organism: different proteins enc ...
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Sialolithiasis
Sialolithiasis (also termed salivary calculi, or salivary stones) is a crystallopathy where a calcified mass or ''sialolith'' forms within a salivary gland, usually in the duct of the submandibular gland (also termed " Wharton's duct"). Less commonly the parotid gland or rarely the sublingual gland or a minor salivary gland may develop salivary stones. The usual symptoms are pain and swelling of the affected salivary gland, both of which get worse when salivary flow is stimulated, e.g. with the sight, thought, smell or taste of food, or with hunger or chewing. This is often termed "mealtime syndrome." Inflammation or infection of the gland may develop as a result. Sialolithiasis may also develop because of the presence of existing chronic infection of the glands, dehydration (e.g. use of phenothiazines), Sjögren's syndrome and/or increased local levels of calcium, but in many instances the cause is idiopathic (unknown). The condition is usually managed by removing the stone, an ...
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