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PKD2
Polycystin-2 is a protein that in humans is encoded by the ''PKD2'' gene. This gene encodes a member of the polycystin protein family, called TRPP2, previously known as polycystin-2, PC2 or APKD2. TRPP2 contains multiple transmembrane domains, and cytoplasmic N- and C-termini. The protein may be an integral membrane protein involved in cell-cell/matrix interactions. TRPP2 may function in renal tubular development, morphology, and function, and may modulate intracellular calcium homeostasis and other signal transduction pathways. This protein interacts with polycystin 1 (TRPP1) to produce cation-permeable currents. It was discovered by Stefan Somlo at Yale University. Clinical significance Mutations in this gene have been associated with autosomal dominant polycystic kidney disease. Interactions Polycystin 2 has been shown to interact with the proteins TRPC1, PKD1 and TNNI3. See also * HAX1 * TRPP TRPP (transient receptor potential polycystic) is a family of transie ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Autosomal Dominant Polycystic Kidney Disease
Autosomal dominant polycystic kidney disease (ADPKD) is one of the most common, life-threatening inherited human disorders and the most common hereditary kidney disease. It is associated with large interfamilial and intrafamilial variability, which can be explained to a large extent by its genetic heterogeneity and modifier genes. It is also the most common of the inherited cystic kidney diseases — a group of disorders with related but distinct pathogenesis, characterized by the development of renal cysts and various extrarenal manifestations, which in case of ADPKD include cysts in other organs, such as the liver, seminal vesicles, pancreas, and arachnoid membrane, as well as other abnormalities, such as intracranial aneurysms and dolichoectasias, aortic root dilatation and aneurysms, mitral valve prolapse, and abdominal wall hernias. Over 50% of patients with ADPKD eventually develop end stage kidney disease and require dialysis or kidney transplantation.; Reprinted in ADPKD ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
TRPP
TRPP (transient receptor potential polycystic) is a family of transient receptor potential ion channels which when mutated can cause polycystic kidney disease. Subcategories TRPP subunits can be divided into two subcategories depending on structural similarity. Polycystic Kidney Disease 1 (PKD1)-Like Group The first group, polycystic kidney disease 1 (PKD1)-like, contains polycystin-1 (Previously known as TRPP1), PKDREJ, PKD1L1, PKD1L2, and PKD1L3. Polycystin-1 contains numerous N-terminal adhesive domains that are important for cell-cell contact.Islam, M. STransient Receptor Potential Channels Advances in Experimental Medicine and Biology. Vol 704. This group of subunits also contain a large extracellular domain with numerous polycystin motifs. These motifs are of unknown function and are located between the S6 and S7 segments. The large intracellular C-terminal segment of TRPP1 seems to interact with TRPP2 to act as a signaling complex. Polycystic Kidney Disease 2 (PKD2)-Like ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
PKD1
Polycystin 1 (often abbreviated to PC1) is a protein that in humans is encoded by the ''PKD1'' gene. Mutations of ''PKD1'' are associated with most cases of autosomal dominant polycystic kidney disease, a severe hereditary disorder of the kidneys characterised by the development of renal cysts and severe kidney dysfunction. Protein structure and function PC1 is a membrane-bound protein 4303 amino acids in length expressed largely upon the primary cilium, as well as apical membranes, adherens junctions, and desmosomes. It has 11 transmembrane domains, a large extracellular N-terminal domain, and a short (about 200 amino acid) cytoplasmic C-terminal domain. This intracellular domain contains a coiled-coil domain through which PC1 interacts with polycystin 2 (PC2), a membrane-bound Ca2+-permeable ion channel. PC1 has been proposed to act as a G protein–coupled receptor. The C-terminal domain may be cleaved in a number of different ways. In one instance, a ~35 kDa portion of t ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Polycystin 1
Polycystin 1 (often abbreviated to PC1) is a protein that in humans is encoded by the ''PKD1'' gene. Mutations of ''PKD1'' are associated with most cases of autosomal dominant polycystic kidney disease, a severe hereditary disorder of the kidneys characterised by the development of renal cysts and severe kidney dysfunction. Protein structure and function PC1 is a membrane-bound protein 4303 amino acids in length expressed largely upon the primary cilium, as well as apical membranes, adherens junctions, and desmosomes. It has 11 transmembrane domains, a large extracellular N-terminal domain, and a short (about 200 amino acid) cytoplasmic C-terminal domain. This intracellular domain contains a coiled-coil domain through which PC1 interacts with polycystin 2 (PC2), a membrane-bound Ca2+-permeable ion channel. PC1 has been proposed to act as a G protein–coupled receptor. The C-terminal domain may be cleaved in a number of different ways. In one instance, a ~35 kDa portion of t ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
TRPC1
Transient receptor potential canonical 1 (TRPC1) is a protein that in humans is encoded by the ''TRPC1'' gene. Function TRPC1 is an ion channel located on the plasma membrane of numerous human and animal cell types. It is a nonspecific cation channel, which means that both sodium and calcium ions can pass through it. TRPC1 is thought to mediate calcium entry in response to depletion of endoplasmic calcium stores or activation of receptors coupled to the phospholipase C system. In HEK293 cells the unitary current-voltage relationship of endogenous TRPC1 channels is almost linear, with a slope conductance of about 17 pS. The extrapolated reversal potential of TRPC1 channels is +30 mV. The TRPC1 protein is widely expressed throughout the mammalian brain and has a similar corticolimbic expression pattern as TRPC4 and TRPC5. The highest density of TRPC1 protein is found in the lateral septum, an area with dense TRPC4 expression, and hippocampus and prefrontal cortex, areas with de ... [...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] |
TNNI3
Troponin I, cardiac muscle is a protein that in humans is encoded by the ''TNNI3'' gene. It is a tissue-specific subtype of troponin I, which in turn is a part of the troponin complex image:Troponin Ribbon Diagram.png, 400px, Ribbon representation of the human cardiac troponin core complex (52 kDa core) in the calcium-saturated form. Blue = troponin C; green = troponin I; magenta = troponin T.; ; rendered with PyMOL Troponin, .... The ''TNNI3'' gene encoding cardiac troponin I (cTnI) is located at 19q13.4 in the human chromosomal genome. Human cTnI is a 24 kDa protein consisting of 210 amino acids with isoelectric point (pI) of 9.87. cTnI is exclusively expressed in adult cardiac muscle. Gene evolution left, Figure 1: A phylogenetic tree is derived from alignment of amino acid sequences. cTnI has diverged from the skeletal muscle isoforms of TnI (slow TnI and fast TnI) mainly with a unique N-terminal extension. The amino acid sequence of cTnI is strongly conserved among ma ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Stefan Somlo
Stefan may refer to: * Stefan (given name) * Stefan (surname) * Ștefan, a Romanian given name and a surname * Štefan, a Slavic given name and surname * Stefan (footballer) (born 1988), Brazilian footballer * Stefan Heym, pseudonym of German writer Helmut Flieg (1913–2001) * Stefan (honorific), a Serbian title * ''Stefan'' (album), a 1987 album by Dennis González See also * Stefan number, a dimensionless number used in heat transfer * Sveti Stefan Sveti Stefan ( Montenegrin and Serbian: Свети Стефан, ; lit. "Saint Stephen") is a town in Budva Municipality, on the Adriatic coast of Montenegro, approximately southeast of Budva. The town is known for the Aman Sveti Stefan resort, ... or Saint Stefan, a small islet in Montenegro * Stefanus (other) {{Disambiguation ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Yale University
Yale University is a private research university in New Haven, Connecticut. Established in 1701 as the Collegiate School, it is the third-oldest institution of higher education in the United States and among the most prestigious in the world. It is a member of the Ivy League. Chartered by the Connecticut Colony, the Collegiate School was established in 1701 by clergy to educate Congregational ministers before moving to New Haven in 1716. Originally restricted to theology and sacred languages, the curriculum began to incorporate humanities and sciences by the time of the American Revolution. In the 19th century, the college expanded into graduate and professional instruction, awarding the first PhD in the United States in 1861 and organizing as a university in 1887. Yale's faculty and student populations grew after 1890 with rapid expansion of the physical campus and scientific research. Yale is organized into fourteen constituent schools: the original undergraduate col ... [...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] |
