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SGCG
Gamma-sarcoglycan is a protein that in humans is encoded by the ''SGCG'' gene. The α to δ-sarcoglycans are expressed predominantly (β) or exclusively (α, γ and δ) in striated muscle. A mutation in any of the sarcoglycan genes may lead to a secondary deficiency of the other sarcoglycan proteins, presumably due to destabilisation of the sarcoglycan complex. The disease-causing mutations in the α to δ genes cause disruptions within the dystrophin-associated protein (DAP) complex in the muscle cell membrane. The transmembrane components of the DAP complex link the cytoskeleton to the extracellular matrix in adult muscle fibres, and are essential for the preservation of the integrity of the muscle cell membrane. Function Gamma-sarcoglycan is one of several sarcolemmal transmembrane glycoproteins that interact with dystrophin, probably to provide a link between the membrane associated cytoskeleton and the extracellular matrix. Defects in the protein can lead to early onset ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
FLNC (gene)
Filamin-C (FLN-C) also known as actin-binding-like protein (ABPL) or filamin-2 (FLN2) is a protein that in humans is encoded by the ''FLNC'' gene. Filamin-C is mainly expressed in cardiac and skeletal muscles, and functions at Z-discs and in subsarcolemmal regions. Structure Filamin-C is a 290.8 kDa protein composed of 2725 amino acids. Filamin-C, like the ubiquitously-expressed isoform Filamin-A, have an N-terminal filamentous actin-binding domain, followed by a lengthy C-terminal self-association domain containing a series of immunoglobulin-like domains, and a membrane glycoprotein-binding domain. Filamin-C interacts with γ-sarcoglycan and δ-sarcoglycan at the sarcolemma; myotilin and FATZ/calsarcin/myozenin at Z-lines, as well as LL5β. Filamin-C has also been shown to interact with INPPL1, KCND2, and MAP2K4. Function The family of Filamin proteins crosslink actin filaments into orthogonal networks in cortical cytoplasm and participate in the anchoring of membrane ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Sarcoglycan
The sarcoglycans are a family of transmembrane proteins (α, β, γ, δ or ε) involved in the protein complex responsible for connecting the muscle fibre cytoskeleton to the extracellular matrix, preventing damage to the muscle fibre sarcolemma through shearing forces. The dystrophin glycoprotein complex (DGC) is a membrane-spanning complex that links the interior cytoskeleton to the extracellular matrix in muscle. The sarcoglycan complex is a subcomplex within the DGC and is composed of six muscle-specific, transmembrane proteins (alpha-, beta-, gamma-, delta-, epsilon-,and zeta-sarcoglycan). The sarcoglycans are asparagine-linked glycosylated proteins with single transmembrane domains. The disorders caused by the mutations of the sarcoglycans are called sarcoglycanopathies. Mutations in the α, β, γ or δ genes (not ε) encoding these proteins can lead to the associated limb-girdle muscular dystrophy. Genes * SGCA * SGCB * SGCD * SGCE * SGCG Gamma-sarcoglycan is a prote ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Exons
An exon is any part of a gene that will form a part of the final mature RNA produced by that gene after introns have been removed by RNA splicing. The term ''exon'' refers to both the DNA sequence within a gene and to the corresponding sequence in RNA transcripts. In RNA splicing, introns are removed and exons are covalently joined to one another as part of generating the mature RNA. Just as the entire set of genes for a species constitutes the genome, the entire set of exons constitutes the exome. History The term ''exon'' derives from the expressed region and was coined by American biochemist Walter Gilbert in 1978: "The notion of the cistron… must be replaced by that of a transcription unit containing regions which will be lost from the mature messengerwhich I suggest we call introns (for intragenic regions)alternating with regions which will be expressedexons." This definition was originally made for protein-coding transcripts that are spliced before being translated. Th ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Romani People
The Romani (also spelled Romany or Rromani , ), colloquially known as the Roma, are an Indo-Aryan ethnic group, traditionally nomadic itinerants. They live in Europe and Anatolia, and have diaspora populations located worldwide, with significant concentrations in the Americas. In the English language, the Romani people are widely known by the exonym Gypsies (or Gipsies), which is considered pejorative by many Romani people due to its connotations of illegality and irregularity as well as its historical use as a racial slur. For versions (some of which are cognates) of the word in many other languages (e.g., , , it, zingaro, , and ) this perception is either very small or non-existent. At the first World Romani Congress in 1971, its attendees unanimously voted to reject the use of all exonyms for the Romani people, including ''Gypsy'', due to their aforementioned negative and stereotypical connotations. Linguistic and genetic evidence suggests that the Roma originated ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Maghreb
The Maghreb (; ar, الْمَغْرِب, al-Maghrib, lit=the west), also known as the Arab Maghreb ( ar, المغرب العربي) and Northwest Africa, is the western part of North Africa and the Arab world. The region includes Algeria, Libya, Mauritania (also considered part of West Africa), Morocco, and Tunisia. The Maghreb also includes the disputed territory of Western Sahara (controlled mostly by Morocco and partly by the Sahrawi Arab Democratic Republic) and the Spanish cities Ceuta and Melilla.Article 143. As of 2018, the region had a population of over 100 million people. Through the 18th and 19th centuries, English sources often referred to the region as the Barbary Coast or the Barbary States, a term derived from the demonym of the Berbers. Sometimes, the region is referred to as the Land of the Atlas, referring to the Atlas Mountains, which are located within it. The Maghreb is usually defined as encompassing much of the northern part of Africa, including ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Sarcoglycanopathies
The sarcoglycanopathies are a collection of diseases resulting from mutations in any of the five sarcoglycan genes: α, β, γ, δ or ε. The five sarcoglycanopathies are: α-sarcoglycanopathy, LGMD2D; β-sarcoglycanopathy, LGMD2E; γ-sarcoglycanopathy, LGMD2C; δ-sarcoglycanopathy, LGMD2F and ε-sarcoglycanopathy, myoclonic dystonia. The four different sarcoglycan genes encode proteins that form a tetrameric complex at the muscle cell plasma membrane. This complex stabilizes the association of dystrophin with the dystroglycans and contributes to the stability of the plasma membrane cytoskeleton. The four sarcoglycan genes are related to each other structurally and functionally, but each has a distinct chromosome location. In outbred populations, the relative frequency of mutations in the four genes is alpha >> beta >> gamma >> delta in an 8:4:2:1 ratio. No common mutations have been identified in outbred populations except the R77C mutation, which accounts for up to one-third of t ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
C-terminus
The C-terminus (also known as the carboxyl-terminus, carboxy-terminus, C-terminal tail, C-terminal end, or COOH-terminus) is the end of an amino acid chain (protein or polypeptide), terminated by a free carboxyl group (-COOH). When the protein is translated from messenger RNA, it is created from N-terminus to C-terminus. The convention for writing peptide sequences is to put the C-terminal end on the right and write the sequence from N- to C-terminus. Chemistry Each amino acid has a carboxyl group and an amine group. Amino acids link to one another to form a chain by a dehydration reaction which joins the amine group of one amino acid to the carboxyl group of the next. Thus polypeptide chains have an end with an unbound carboxyl group, the C-terminus, and an end with an unbound amine group, the N-terminus. Proteins are naturally synthesized starting from the N-terminus and ending at the C-terminus. Function C-terminal retention signals While the N-terminus of a protein often c ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
N-terminus
The N-terminus (also known as the amino-terminus, NH2-terminus, N-terminal end or amine-terminus) is the start of a protein or polypeptide, referring to the free amine group (-NH2) located at the end of a polypeptide. Within a peptide, the amine group is bonded to the carboxylic group of another amino acid, making it a chain. That leaves a free carboxylic group at one end of the peptide, called the C-terminus, and a free amine group on the other end called the N-terminus. By convention, peptide sequences are written N-terminus to C-terminus, left to right (in LTR writing systems). This correlates the translation direction to the text direction, because when a protein is translated from messenger RNA, it is created from the N-terminus to the C-terminus, as amino acids are added to the carboxyl end of the protein. Chemistry Each amino acid has an amine group and a carboxylic group. Amino acids link to one another by peptide bonds which form through a dehydration reaction that ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Amino Acids
Amino acids are organic compounds that contain both amino and carboxylic acid functional groups. Although hundreds of amino acids exist in nature, by far the most important are the alpha-amino acids, which comprise proteins. Only 22 alpha amino acids appear in the genetic code. Amino acids can be classified according to the locations of the core structural functional groups, as Alpha and beta carbon, alpha- , beta- , gamma- or delta- amino acids; other categories relate to Chemical polarity, polarity, ionization, and side chain group type (aliphatic, Open-chain compound, acyclic, aromatic, containing hydroxyl or sulfur, etc.). In the form of proteins, amino acid '' residues'' form the second-largest component (water being the largest) of human muscles and other tissues. Beyond their role as residues in proteins, amino acids participate in a number of processes such as neurotransmitter transport and biosynthesis. It is thought that they played a key role in enabling lif ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Transmembrane Protein
A transmembrane protein (TP) is a type of integral membrane protein that spans the entirety of the cell membrane. Many transmembrane proteins function as gateways to permit the transport of specific substances across the membrane. They frequently undergo significant conformational changes to move a substance through the membrane. They are usually highly hydrophobic and aggregate and precipitate in water. They require detergents or nonpolar solvents for extraction, although some of them (beta-barrels) can be also extracted using denaturing agents. The peptide sequence that spans the membrane, or the transmembrane segment, is largely hydrophobic and can be visualized using the hydropathy plot. Depending on the number of transmembrane segments, transmembrane proteins can be classified as single-span (or bitopic) or multi-span (polytopic). Some other integral membrane proteins are called monotopic, meaning that they are also permanently attached to the membrane, but do not pass ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
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