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Desmocollin
Desmocollins are a subfamily of desmosomal cadherins, the transmembrane constituents of desmosomes. They are co-expressed with desmogleins to link adjacent cells by extracellular adhesion. There are seven desmosomal cadherins in humans, three desmocollins and four desmogleins. Desmosomal cadherins allow desmosomes to contribute to the integrity of tissue structure in multicellular living organisms. Structure Three isoforms of desmocollin proteins have been identified. * Desmocollin-1, coded by the DSC1 gene * Desmocollin-2, coded by the DSC2 gene * Desmocollin-3, coded by the DSC3 gene Each desmocollin gene encodes a pair of proteins: a longer 'a' form and a shorter 'b' form. The 'a' and 'b' forms differ in the length of their C-terminus tails. The protein pair is generated by alternative splicing. Desmocollin has four cadherin-like extracellular domains, an extracellular anchor domain, and an intracellular anchor domain. Additionally, the 'a' form has an intracellular ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Desmocollin 2
Desmocollin-2 is a protein that in humans is encoded by the ''DSC2'' gene. Desmocollin-2 is a cadherin-type protein that functions to link adjacent cells together in specialized regions known as desmosomes. Desmocollin-2 is widely expressed, and is the only desmocollin isoform expressed in cardiac muscle, where it localizes to intercalated discs. Mutations in ''DSC2'' have been causally linked to arrhythmogenic right ventricular cardiomyopathy. Structure Desmocollin-2 is a calcium-dependent glycoprotein that is a member of the desmocollin subfamily of the cadherin superfamily. Three different posttranslational modifications (''N''-Glycosylations, ''O''-Mannosylations and disulfide bridges) were present in the extracellular domain of desmocollin-2. The desmocollin family members are arranged as closely linked genes on human chromosome 18q12.1. Human ''DSC2'' consists of greater than 32 kb of DNA and has 17 exons, with exon 16 being alternatively spliced and encoding distinct is ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
DSC2
Desmocollin-2 is a protein that in humans is encoded by the ''DSC2'' gene. Desmocollin-2 is a cadherin-type protein that functions to link adjacent cells together in specialized regions known as desmosomes. Desmocollin-2 is widely expressed, and is the only desmocollin isoform expressed in cardiac muscle, where it localizes to intercalated discs. Mutations in ''DSC2'' have been causally linked to arrhythmogenic right ventricular cardiomyopathy. Structure Desmocollin-2 is a calcium-dependent glycoprotein that is a member of the desmocollin subfamily of the cadherin superfamily. Three different posttranslational modifications (''N''-Glycosylations, ''O''-Mannosylations and disulfide bridges) were present in the extracellular domain of desmocollin-2. The desmocollin family members are arranged as closely linked genes on human chromosome 18q12.1. Human ''DSC2'' consists of greater than 32 kb of DNA and has 17 exons, with exon 16 being alternatively spliced and encoding distinct i ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
DSC3
Desmocollin-3 is a protein that in humans is encoded by the ''DSC3'' gene. Gene The desmosomal family members are arranged in two clusters on chromosome 18, occupying less than 650 kb combined. Alternative splicing results in two transcript variants encoding distinct isoforms. Function Desmocollin-3 is a calcium-dependent glycoprotein that is a member of the desmocollin subfamily of the cadherin superfamily. These desmosomal family members, along with the desmogleins, are found primarily in epithelial cells where they constitute the adhesive proteins of the desmosome cell-cell junction and are required for cell adhesion and desmosome formation. The loss of these components leads to a lack of adhesion and a gain of cellular mobility. Clinical significance Breast cancer Through the process of epigenetic silencing, the expression of the desmocollin-3 protein is down regulated in many breast cancers. Hereditary hypotrichosis A consanguineous Afghan family in whi ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
DSC1
Desmocollin-1 is a protein that in humans is encoded by the ''DSC1'' gene. The protein encoded by this gene is a calcium-dependent glycoprotein that is a member of the desmocollin subfamily of the cadherin superfamily. These desmosomal family members, along with the desmogleins, are found primarily in epithelial cells where they constitute the adhesive proteins of the desmosome cell-cell junction and are required for cell adhesion and desmosome formation. The desmosomal family members are arranged in two clusters on chromosome 18, occupying less than 650 kb combined. Alternative splicing results in two transcript variants encoding distinct isoforms. Interactions DSC1 has been shown to interact with Desmoglein 2 Desmoglein-2 is a protein that in humans is encoded by the ''DSG2'' gene. Desmoglein-2 is highly expressed in epithelial cells and cardiomyocytes. Desmoglein-2 is localized to desmosome structures at regions of cell-cell contact and functions to st .... References Furthe ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Desmosome
A desmosome (; "binding body"), also known as a macula adherens (plural: maculae adherentes) (Latin for ''adhering spot''), is a cell structure specialized for cell-to-cell adhesion. A type of junctional complex, they are localized spot-like adhesions randomly arranged on the lateral sides of plasma membranes. Desmosomes are one of the stronger cell-to-cell adhesion types and are found in tissue that experience intense mechanical stress, such as cardiac muscle tissue, bladder tissue, gastrointestinal mucosa, and epithelia. Structure Desmosomes are composed of desmosome-intermediate filament complexes (DIFC), which is a network of cadherin proteins, linker proteins and intermediate filaments. The DIFCs can be broken into three regions: the extracellular core region, or desmoglea, the outer dense plaque, or ODP, and the inner dense plaque, or IDP. The extracellular core region, approximately 34 nm in length, contains desmoglein and desmocollin, which are in the cadher ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Plakoglobin
Plakoglobin, also known as junction plakoglobin or gamma-catenin, is a protein that in humans is encoded by the ''JUP'' gene. Plakoglobin is a member of the catenin protein family and homologous to β-catenin. Plakoglobin is a cytoplasmic component of desmosomes and adherens junctions structures located within intercalated discs of cardiac muscle that function to anchor sarcomeres and join adjacent cells in cardiac muscle. Mutations in plakoglobin are associated with arrhythmogenic right ventricular dysplasia. Structure Human plakoglobin is 81.7 kDa in molecular weight and 745 amino acids long. The ''JUP'' gene contains 13 exons spanning 17 kb on chromosome 17q21. Plakoglobin is a member of the catenin family, since it contains a distinct repeating amino acid motif called the armadillo repeat. Plakoglobin is highly similar to β-catenin; both have 12 armadillo repeats as well as N-terminal and C-terminal globular domains of unknown structure. Plakoglobin was originally identifie ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Cadherin
Cadherins (named for "calcium-dependent adhesion") are a type of cell adhesion molecule (CAM) that is important in the formation of adherens junctions to allow cells to adhere to each other . Cadherins are a class of type-1 transmembrane proteins, and they are dependent on calcium (Ca2+) ions to function, hence their name. Cell-cell adhesion is mediated by extracellular cadherin domains, whereas the intracellular cytoplasmic tail associates with numerous adaptors and signaling proteins, collectively referred to as the cadherin adhesome. The cadherin family is essential in maintaining the cell-cell contact and regulating cytoskeletal complexes. The cadherin superfamily includes cadherins, protocadherins, desmogleins, desmocollins, and more. In structure, they share ''cadherin repeats'', which are the extracellular Ca2+- binding domains. There are multiple classes of cadherin molecules, each designated with a prefix (in general, noting the types of tissue with which it is ass ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Plakoglobin
Plakoglobin, also known as junction plakoglobin or gamma-catenin, is a protein that in humans is encoded by the ''JUP'' gene. Plakoglobin is a member of the catenin protein family and homologous to β-catenin. Plakoglobin is a cytoplasmic component of desmosomes and adherens junctions structures located within intercalated discs of cardiac muscle that function to anchor sarcomeres and join adjacent cells in cardiac muscle. Mutations in plakoglobin are associated with arrhythmogenic right ventricular dysplasia. Structure Human plakoglobin is 81.7 kDa in molecular weight and 745 amino acids long. The ''JUP'' gene contains 13 exons spanning 17 kb on chromosome 17q21. Plakoglobin is a member of the catenin family, since it contains a distinct repeating amino acid motif called the armadillo repeat. Plakoglobin is highly similar to β-catenin; both have 12 armadillo repeats as well as N-terminal and C-terminal globular domains of unknown structure. Plakoglobin was originally identifie ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Arrhythmogenic Cardiomyopathy
Arrhythmogenic cardiomyopathy (ACM), arrhythmogenic right ventricular dysplasia (ARVD), or arrhythmogenic right ventricular cardiomyopathy (ARVC), most commonly is an inherited heart disease. ACM is caused by genetic defects of the parts of heart muscle (also called ''myocardium'' or ''cardiac muscle'') known as desmosomes, areas on the surface of heart muscle cells which link the cells together. The desmosomes are composed of several proteins, and many of those proteins can have harmful mutations. ARVC can also develop in intense endurance athletes in the absence of desmosomal abnormalities. Exercise-induced ARVC cause possibly is a result of excessive right ventricular wall stress during high intensity exercise. The disease is a type of non-ischemic cardiomyopathy that primarily involves the right ventricle, though cases of exclusive left ventricular disease have been reported. It is characterized by hypokinetic areas involving the free wall of the ventricle, with fibrofatty ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Desmoglein
The desmogleins are a family of desmosomal cadherins consisting of proteins DSG1, DSG2, DSG3, and DSG4. They play a role in the formation of desmosomes that join cells to one another. Pathology Desmogleins are targeted in the autoimmune disease pemphigus. Desmoglein proteins are a type of cadherin, which is a transmembrane protein that binds with other cadherins to form junctions known as desmosomes between cells. These desmoglein proteins thus hold cells together, but, when the body starts producing antibodies against desmoglein, these junctions break down, and this results in subsequent blister A blister is a small pocket of body fluid ( lymph, serum, plasma, blood, or pus) within the upper layers of the skin, usually caused by forceful rubbing (friction), burning, freezing, chemical exposure or infection. Most blisters are filled ... or vesicle formation.Bolognia JL, Jorizzo JL, Schaffer JV, editors. Dermatology. 3rd ed. Philadelphia: Elsevier Saunders; 2012 Ref ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Desmoglein
The desmogleins are a family of desmosomal cadherins consisting of proteins DSG1, DSG2, DSG3, and DSG4. They play a role in the formation of desmosomes that join cells to one another. Pathology Desmogleins are targeted in the autoimmune disease pemphigus. Desmoglein proteins are a type of cadherin, which is a transmembrane protein that binds with other cadherins to form junctions known as desmosomes between cells. These desmoglein proteins thus hold cells together, but, when the body starts producing antibodies against desmoglein, these junctions break down, and this results in subsequent blister A blister is a small pocket of body fluid ( lymph, serum, plasma, blood, or pus) within the upper layers of the skin, usually caused by forceful rubbing (friction), burning, freezing, chemical exposure or infection. Most blisters are filled ... or vesicle formation.Bolognia JL, Jorizzo JL, Schaffer JV, editors. Dermatology. 3rd ed. Philadelphia: Elsevier Saunders; 2012 Ref ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Naxos Syndrome
__notoc__ Naxos disease (also known as "diffuse non-epidermolytic palmoplantar keratoderma with woolly hair and cardiomyopathy" or "diffuse palmoplantar keratoderma with woolly hair and arrhythmogenic right ventricular cardiomyopathy", first described on the island of Naxos by Nikos Protonotarios) is a cutaneous condition characterized by a palmoplantar keratoderma. The prevalence of the syndrome is up to 1 in every 1000 people in the Greek islands. It has been associated with mutations in the genes encoding the proteins desmoplakin, plakoglobin, DSC2, desmocollin-2, and SRC-interacting protein (SIP). Naxos disease has the same cutaneous phenotype as the Carvajal syndrome. Symptoms Between 80 and 99% of those with Naxos disease will display some of the following symptoms: * Disease of the heart muscle * Thickening of palms and soles * Sudden increased heart rate * Dizzy spells * Kinked hair See also * Olmsted syndrome * List of cutaneous conditions * List of conditions caus ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
