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SLC7A9
b(0,+)-type amino acid transporter 1, also known as b(0,+)AT1, is a protein which in humans is encoded by the ''SLC7A9'' gene. Function This gene encodes a protein that belongs to a family of light subunits of amino acid transporters. This protein plays a role in the high-affinity and sodium-independent transport of cystine and neutral and dibasic amino acids, and appears to function in the reabsorption of cystine in the kidney tubule. The protein associates with the protein coded for by SLC3A1. Clinical significance Mutations in this gene cause non-type I cystinuria, a disease that leads to cystine stones in the urinary system due to impaired transport of cystine and dibasic amino acids. See also * Heterodimeric amino acid transporter Heterodimeric amino-acid transporters are a family of transport proteins that facilitate the transport of certain amino acids across cell membrane The cell membrane (also known as the plasma membrane (PM) or cytoplasmic membrane, and his ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Cystinuria
Cystinuria is an inherited autosomal recessive disease characterized by high concentrations of the amino acid cystine in the urine, leading to the formation of cystine stones in the kidneys, ureters, and bladder. It is a type of aminoaciduria. "Cystine", not "cysteine," is implicated in this disease; the former is a dimer of the latter. Presentation Cystinuria is a cause of recurrent kidney stones. It is a disease involving the defective transepithelial transport of cystine and dibasic amino acids in the kidney and intestine, and is one of many causes of kidney stones. If not treated properly, the disease could cause serious damage to the kidneys and surrounding organs, and in some rare cases death. The stones may be identified by a positive nitroprusside cyanide test. The crystals are usually hexagonal, translucent, white. Upon removal, the stones may be pink or yellow in color, but later they turn to greenish due to exposure to air. Cystinuria is usually asymptomatic when no ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
SLC3A1
Neutral and basic amino acid transport protein rBAT is a protein that in humans is encoded by the ''SLC3A1'' gene. Mutations in the SLC3A1 gene are associated with cystinuria. See also * Heterodimeric amino acid transporter Heterodimeric amino-acid transporters are a family of transport proteins that facilitate the transport of certain amino acids across cell membrane The cell membrane (also known as the plasma membrane (PM) or cytoplasmic membrane, and historical ... * Solute carrier family References Further reading * * * * * * * * * * * * * * * * * * * * * Solute carrier family {{membrane-protein-stub ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Heterodimeric Amino Acid Transporter
Heterodimeric amino-acid transporters are a family of transport proteins that facilitate the transport of certain amino acids across cell membrane The cell membrane (also known as the plasma membrane (PM) or cytoplasmic membrane, and historically referred to as the plasmalemma) is a biological membrane that separates and protects the interior of all cells from the outside environment ( ...s. Each comprises a light and a heavy protein subunit. Transport activity happens in the light. The following table lists the members of this family: References Transport proteins Protein families Solute carrier family {{protein-stub ... [...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] |
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 Transp ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Cystine
Cystine is the oxidized derivative of the amino acid cysteine and has the formula (SCH2CH(NH2)CO2H)2. It is a white solid that is poorly soluble in water. As a residue in proteins, cystine serves two functions: a site of redox reactions and a mechanical linkage that allows proteins to retain their three-dimensional structure. Formation and reactions Structure Cystine is the disulfide derived from the amino acid cysteine. The conversion can be viewed as an oxidation: : Cystine contains a disulfide bond, two amine groups, and two carboxylic acid groups. As for other amino acids, the amine and carboxylic acid groups exist is rapid equilibrium with the ammonium-carboxylate tautomer. The great majority of the literature concerns the ''l,l-''cystine, derived from ''l''-cysteine. Other isomers include ''d,d''-cystine and the meso isomer d,l-cystine, neither of which is biologically significant. Occurrence Cystine is common in many foods such as eggs, meat, dairy products, and whole ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Nephron
The nephron is the minute or microscopic structural and functional unit of the kidney. It is composed of a renal corpuscle and a renal tubule. The renal corpuscle consists of a tuft of capillaries called a glomerulus and a cup-shaped structure called Bowman's capsule. The renal tubule extends from the capsule. The capsule and tubule are connected and are composed of epithelial cells with a lumen. A healthy adult has 1 to 1.5 million nephrons in each kidney. Blood is filtered as it passes through three layers: the endothelial cells of the capillary wall, its basement membrane, and between the foot processes of the podocytes of the lining of the capsule. The tubule has adjacent peritubular capillaries that run between the descending and ascending portions of the tubule. As the fluid from the capsule flows down into the tubule, it is processed by the epithelial cells lining the tubule: water is reabsorbed and substances are exchanged (some are added, others are removed); first with t ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
