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CLCNKA
Chloride channel protein ClC-Ka is a protein that in humans is encoded by the ''CLCNKA'' gene. Multiple transcript variants encoding different isoforms have been found for this gene. Function This gene is a member of the CLC family of voltage-gated chloride channels. The encoded protein is predicted to have 12 transmembrane domains, and requires a beta subunit called barttin to form a functional channel. It is thought to function in salt reabsorption in the kidney and potassium recycling in the inner ear. The gene is highly similar to CLCNKB, which is located 10 kb downstream from this gene. Gene variants CLCNKA encodes one of the two major chloride channels found in the kidney, the ClC-Ka channel (the other class being the ClC-Kb from CLCNKB). The CLCNKA gene is subject, like all genes, to variation due to single-nucleotide polymorphisms (SNPs), in which a single base (A, T, C, or G) is randomly replaced by another base. SNPs in the coding regions of CLCKNA may have conseq ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
CLCNKB
Chloride channel Kb, also known as CLCNKB, is a protein which in humans is encoded by the ''CLCNKB'' gene. Chloride channel Kb (CLCNKB) is a member of the CLC family of voltage-gated chloride channels, which comprises at least 9 mammalian chloride channels. Each is believed to have 12 transmembrane domains and intracellular N and C termini. Mutations in CLCNKB result in the autosomal recessive Type III Bartter syndrome. CLCNKA and CLCNKB are closely related (94% sequence identity), tightly linked (separated by 11 kb of genomic sequence) and are both expressed in mammalian kidney. See also * Chloride channel Chloride channels are a superfamily of poorly understood ion channels specific for chloride. These channels may conduct many different ions, but are named for chloride because its concentration ''in vivo'' is much higher than other anions. Several ... * BSND, barttin, accessory subunit beta for this channel References Further reading * * * * * * * * * * * * * * * ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Chloride Channel
Chloride channels are a superfamily of poorly understood ion channels specific for chloride. These channels may conduct many different ions, but are named for chloride because its concentration ''in vivo'' is much higher than other anions. Several families of voltage-gated ion channel, voltage-gated channels and ligand-gated ion channel, ligand-gated channels (e.g., the CaCC families) have been characterized in humans. Voltage-gated chloride channels perform numerous crucial physiological and cellular functions, such as controlling pH, volume homeostasis, transporting organic solutes, regulating cell migration, proliferation, and differentiation. Based on sequence homology the chloride channels can be subdivided into a number of groups. General functions Voltage-gated chloride channels are important for setting cell resting membrane potential and maintaining proper cell volume. These channels conduct or other anions such as . The structure of these channels are not like other k ... [...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] |
BSND
Bartter syndrome, infantile, with sensorineural deafness (Barttin), also known as BSND, is a human gene which is associated with Bartter syndrome. This gene encodes an essential beta subunit for CLC chloride channels. These heteromeric channels localize to basolateral membranes of renal tubules in the kidney and of potassium-secreting epithelia of the inner ear. Mutations in this gene have been associated with Bartter syndrome with sensorineural deafness Sensorineural hearing loss (SNHL) is a type of hearing loss in which the root cause lies in the inner ear, sensory organ (cochlea and associated structures), or the vestibulocochlear nerve (Cranial nerves, cranial nerve VIII). SNHL accounts for a .... BSND as a Diagnostic Marker BSND is a key diagnostic marker in differentiating the chromophobe renal cell carcinoma (chRCC) from other types of RCC. chRCC is a type of kidney cancer that presents in the cell lining of the small tubules in the kidney. RNA-sequence data from The ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Single-nucleotide Polymorphisms
In genetics and bioinformatics, a single-nucleotide polymorphism (SNP ; plural SNPs ) is a germline substitution of a single nucleotide at a specific position in the genome. Although certain definitions require the substitution to be present in a sufficiently large fraction of the population (e.g. 1% or more), many publications do not apply such a frequency threshold. For example, a G nucleotide present at a specific location in a reference genome may be replaced by an A in a minority of individuals. The two possible nucleotide variations of this SNP – G or A – are called alleles. SNPs can help explain differences in susceptibility to a wide range of diseases across a population. For example, a common SNP in the CFH gene is associated with increased risk of age-related macular degeneration. Differences in the severity of an illness or response to treatments may also be manifestations of genetic variations caused by SNPs. For example, two common SNPs in the ''A ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Linkage Disequilibrium
Linkage disequilibrium, often abbreviated to LD, is a term in population genetics referring to the association of genes, usually linked genes, in a population. It has become an important tool in medical genetics and other fields In defining LD, it is important first to distinguish the two very different concepts, linkage disequilibrium and linkage (genetic linkage). Linkage disequilibrium refers to the association of genes ''in a population.'' Linkage, on the other hand, tells us whether genes are on the same chromosome ''in an individual''. There is no necessary relationship between the two. Genes that are closely linked may or may not be associated in populations. Looking at parents and offspring, if genes at closely linked loci are together in the parent then they will usually be together in the offspring. But looking at individuals in a population with no known common ancestry, it is much more difficult to see any relationships. To give a concrete, although imaginary, example i ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Left Ventricular Hypertrophy
Left ventricular hypertrophy (LVH) is thickening of the heart muscle of the left ventricle of the heart, that is, left-sided ventricular hypertrophy and resulting increased left ventricular mass. Causes While ventricular hypertrophy occurs naturally as a reaction to aerobic exercise and strength training, it is most frequently referred to as a pathological reaction to cardiovascular disease, or high blood pressure. It is one aspect of ventricular remodeling. While LVH itself is not a disease, it is usually a marker for disease involving the heart. Disease processes that can cause LVH include any disease that increases the afterload that the heart has to contract against, and some primary diseases of the muscle of the heart. Causes of increased afterload that can cause LVH include aortic stenosis, aortic insufficiency and hypertension. Primary disease of the muscle of the heart that cause LVH are known as hypertrophic cardiomyopathies, which can lead into heart failure. ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Bartter Syndrome
Bartter syndrome (BS) is a rare inherited disease characterised by a defect in the thick ascending limb of the loop of Henle, which results in low potassium levels (hypokalemia), increased blood pH (alkalosis), and normal to low blood pressure. There are two types of Bartter syndrome: neonatal and classic. A closely associated disorder, Gitelman syndrome, is milder than both subtypes of Bartter syndrome. Signs and symptoms In 90% of cases, neonatal Bartter syndrome is seen between 24 and 30 weeks of gestation with excess amniotic fluid (polyhydramnios). After birth, the infant is seen to urinate and drink excessively (polyuria, and polydipsia, respectively). Life-threatening dehydration may result if the infant does not receive adequate fluids. About 85% of infants dispose of excess amounts of calcium in the urine (hypercalciuria) and kidneys ( nephrocalcinosis), which may lead to kidney stones. In rare occasions, the infant may progress to kidney failure. Patients with classic ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Cardiorenal Syndrome
Cardiorenal syndrome (CRS) refers to the spectrum of disorders in which acute or chronic dysfunction of the heart or kidneys leads to acute or chronic dysfunction of the other. The condition is classified into five subtypes based on the primary organ dysfunction and whether the disease process is acute or chronic. The heart and the kidneys maintain hemodynamic stability and organ perfusion through an intricate network. CRS results from a complex interplay of hemodynamic alterations, neurohormonal activation, inflammatory mediators, and endothelial dysfunction, all contributing to progressive organ injury. Cardiorenal syndrome is commonly associated with conditions such as heart failure, chronic kidney disease (CKD), acute kidney injury (AKI), and systemic hypertension. Management of CRS primarily focuses on addressing the underlying cause while mitigating the complications associated with the syndrome. Since volume overload is a predominant feature in most patients, treat ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
