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SLC6A19
Sodium-dependent neutral amino acid transporter B(0)AT1 is a protein that in humans is encoded by the ''SLC6A19'' gene. Function SLC6A19 is a system B(0) transporter that mediates epithelial resorption of neutral amino acids across the apical membrane in the kidney and intestine. Clinical significance Mutations in the SLC6A19 gene cause Hartnup disease Hartnup disease (also known as " pellagra-like dermatosis" and "Hartnup disorder") is an autosomal recessive metabolic disorder affecting the absorption of nonpolar amino acids (particularly tryptophan that can be, in turn, converted into se .... References Further reading * * * * * * * {{Membrane transport proteins Solute carrier family ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Hartnup Disease
Hartnup disease (also known as " pellagra-like dermatosis" and "Hartnup disorder") is an autosomal recessive metabolic disorder affecting the absorption of nonpolar amino acids (particularly tryptophan that can be, in turn, converted into serotonin, melatonin, and niacin). Niacin is a precursor to nicotinamide (both are forms of vitamin B3), a necessary component of NAD+. The causative gene, '' SLC6A19'', is located on chromosome 5. It is named after the British family, Hartnup, who had this disease. Signs and symptoms Hartnup disease manifests during infancy with variable clinical presentation: failure to thrive, photosensitivity, intermittent ataxia, nystagmus, and tremor. Nicotinamide is necessary for neutral amino acid transporter production in the proximal renal tubules found in the kidney, and intestinal mucosal cells found in the small intestine. Therefore, a symptom stemming from this disorder results in increased amounts of amino acids in the urine. Pell ... [...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 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 ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
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 ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Amino Acid Transporter
An amino acid transporter is a membrane transport protein that transports amino acids. They are mainly of the solute carrier family. Families There are several families that function in amino acid transport, some of these include: TC# 2.A.3- Amino Acid-Polyamine-Organocation (APC) Superfamily TC# 2.A.18- Amino Acid/Auxin Permease (AAAP) Family TC# 2.A.23- Dicarboxylate/Amino Acid:Cation (Na+ or H+) Symporter (DAACS) Family TC# 2.A.26- Branched Chain Amino Acid:Cation Symporter (LIVCS) Family TC# 2.A.42- Hydroxy/Aromatic Amino Acid Permease (HAAAP) Family TC# 2.A.78- Branched Chain Amino Acid Exporter (LIV-E) Family TC# 2.A.95- 6TMS Neutral Amino Acid Transporter (NAAT) Family TC# 2.A.118- Basic Amino Acid Antiporter (ArcD) Family TC# 2.A.120- Putative Amino Acid Permease (PAAP) Family Solute carrier family examples * (1) high affinity glutamate and neutral amino acid transporter * (3) heavy subunits of heteromeric amino acid transporters * (6) Bacterial Leucine Trans ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Apical Membrane
The cell membrane (also known as the plasma membrane or cytoplasmic membrane, and historically referred to as the plasmalemma) is a biological membrane that separates and protects the interior of a cell from the outside environment (the extracellular space). The cell membrane consists of a lipid bilayer, made up of two layers of phospholipids with cholesterols (a lipid component) interspersed between them, maintaining appropriate membrane fluidity at various temperatures. The membrane also contains membrane proteins, including integral proteins that span the membrane and serve as membrane transporters, and peripheral proteins that loosely attach to the outer (peripheral) side of the cell membrane, acting as enzymes to facilitate interaction with the cell's environment. Glycolipids embedded in the outer lipid layer serve a similar purpose. The cell membrane controls the movement of substances in and out of a cell, being selectively permeable to ions and organic molecule ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
