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SAR1
The Coat Protein Complex II, or COPII, is a group of proteins that facilitate the formation of vesicles to transport proteins from the endoplasmic reticulum to the Golgi apparatus or endoplasmic-reticulum–Golgi intermediate compartment. This process is termed anterograde transport, in contrast to the retrograde transport associated with the COPI complex. COPII is assembled in two parts: first an inner layer of Sar1, Sec23, and Sec24 forms; then the inner coat is surrounded by an outer lattice of Sec13 and Sec31. Function The COPII coat is responsible for the formation of vesicles from the endoplasmic reticulum (ER). These vesicles transport cargo proteins to the Golgi apparatus (in yeast) or the endoplasmic-reticulum-Golgi intermediate compartment (ERGIC, in mammals). Coat assembly is initiated when the cytosolic Ras GTPase Sar1 is activated by its guanine nucleotide exchange factor Sec12. Activated Sar1-GTP inserts itself into the ER membrane, binding preferentially to areas ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Halperin-Birk Syndrome
Halperin-Birk syndrome (HLBKS) is a rare autosomal recessive neurodevelopmental disorder caused by a null mutation in the ''SEC31A'' gene. Signs and symptoms include intrauterine growth retardation, marked developmental delay, spastic quadriplegia with profound contractures, dysmorphism, and optic nerve atrophy with no eye fixation. Brain MRI demonstrated microcephaly and agenesis of the corpus callosum. The syndrome was first described in 2019 by Daniel Halperin and Prof. Ohad Birk at the Morris Kahn Laboratory for Human Genetics, Ben Gurion University of the Negev. Signs and symptoms Inheritance * Autosomal recessive Growth * Intrauterine growth retardation * Failure to thrive Head & neck * Head ** Microcephaly * Face ** Triangular face ** Pointed face ** Micrognathia * Ears ** Hearing impairment * Eyes ** Cataracts, congenital ** Optic atrophy ** Lack of fixation ** Visual impairment ** Long eyelashes * Mouth ** High-arched palate Thick lips Respiratory * Recu ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Chylomicron Retention Disease
Chylomicron retention disease is a disorder of fat absorption. It is associated with SAR1B. Mutations in SAR1B prevent the release of chylomicrons in the circulation which leads to nutritional and developmental problems. It is a rare autosomal recessive disorder with around 40 cases reported worldwide. Since the disease allele is recessive, parents usually do not show symptoms. Without functional chylomicrons, certain fat-soluble vitamins such as vitamin D and vitamin E cannot be absorbed. Chylomicrons have a crucial role in fat absorption and transport, thus a deficiency in chylomicron functioning reduces available levels of dietary fats and fat-soluble vitamins. History Chylomicron Retention Disease, also called Anderson's disease, is an autosomal recessive lipid malabsorption syndrome characterized by abnormally low amounts of cholesterol in the blood. This disease most frequently is diagnosed in infants. Charlotte Anderson first published a description of the disorder in 1 ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Cranio-lenticulo-sutural Dysplasia
Cranio-lenticulo-sutural dysplasia (CLSD, or Boyadjiev–Jabs syndrome) is a neonatal/infancy disease caused by a disorder in the 14th chromosome. It is an autosomal recessive disorder, meaning that both recessive genes must be inherited from each parent in order for the disease to manifest itself. The disease causes a significant dilation of the endoplasmic reticulum in fibroblasts of the host with CLSD. Due to the distension of the endoplasmic reticulum, export of proteins (such as collagen) from the cell is disrupted. The production of SEC23A protein is involved in the pathway of exporting collagen (the COPII pathway), but a missense mutation causes and underproduction of SEC23A which inhibits the pathway, affecting collagen secretion. This decrease in collagen secretion can lead to the bone defects that are also characteristic of the disease, such as skeletal dysplasia and under-ossification. Decreased collagen in CLSD-affected individuals contributes to improper bone format ... [...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] |
Cuboctahedron
A cuboctahedron is a polyhedron with 8 triangular faces and 6 square faces. A cuboctahedron has 12 identical vertices, with 2 triangles and 2 squares meeting at each, and 24 identical edges, each separating a triangle from a square. As such, it is a quasiregular polyhedron, i.e. an Archimedean solid that is not only vertex-transitive but also edge-transitive. It is radially equilateral. Its dual polyhedron is the rhombic dodecahedron. The cuboctahedron was probably known to Plato: Heron's ''Definitiones'' quotes Archimedes as saying that Plato knew of a solid made of 8 triangles and 6 squares. Synonyms *''Vector Equilibrium'' (Buckminster Fuller) because its center-to-vertex radius equals its edge length (it has radial equilateral symmetry). Fuller also called a cuboctahedron built of rigid struts and flexible vertices a ''jitterbug''; this object can be progressively transformed into an icosahedron, octahedron, and tetrahedron by folding along the diagonals of its square sid ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Threonine
Threonine (symbol Thr or T) is an amino acid that is used in the biosynthesis of proteins. It contains an α-amino group (which is in the protonated −NH form under biological conditions), a carboxyl group (which is in the deprotonated −COO− form under biological conditions), and a side chain containing a hydroxyl group, making it a polar, uncharged amino acid. It is essential in humans, meaning the body cannot synthesize it: it must be obtained from the diet. Threonine is synthesized from aspartate in bacteria such as ''E. coli''. It is encoded by all the codons starting AC (ACU, ACC, ACA, and ACG). Threonine sidechains are often hydrogen bonded; the most common small motifs formed are based on interactions with serine: ST turns, ST motifs (often at the beginning of alpha helices) and ST staples (usually at the middle of alpha helices). Modifications The threonine residue is susceptible to numerous posttranslational modifications. The hydroxyl side-chain can unde ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
STX5
Syntaxin-5 is a protein that in humans is encoded by the ''STX5'' gene. Interactions STX5 has been shown to interact with: * BET1L, * GOSR1, * GOSR2, * NAPA, and * USO1 General vesicular transport factor p115 is a protein that in humans is encoded by the ''USO1'' gene. Function The protein encoded by this gene is a peripheral membrane protein which recycles between the cytosol and the Golgi apparatus during i .... References Further reading * * * * * * * * * * * * * * * {{gene-11-stub ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
BET1
BET1 homolog is a protein that in humans is encoded by the ''BET1'' gene. This gene encodes a golgi-associated membrane protein that participates in vesicular transport from the endoplasmic reticulum (ER) to the Golgi complex. The encoded protein functions as a soluble N-ethylaleimide-sensitive factor attachment protein receptor and may be involved in the docking of ER-derived vesicles with the cis-Golgi membrane. Alternatively spliced transcript variants encoding different isoforms A protein isoform, or "protein variant", is a member of a set of highly similar proteins that originate from a single gene or gene family and are the result of genetic differences. While many perform the same or similar biological roles, some isof ... have been described but their full-length nature has not been determined. References Further reading * * * * * * * * * * External links * * {{gene-7-stub ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Cancer
Cancer is a group of diseases involving abnormal cell growth with the potential to invade or spread to other parts of the body. These contrast with benign tumors, which do not spread. Possible signs and symptoms include a lump, abnormal bleeding, prolonged cough, unexplained weight loss, and a change in bowel movements. While these symptoms may indicate cancer, they can also have other causes. Over 100 types of cancers affect humans. Tobacco use is the cause of about 22% of cancer deaths. Another 10% are due to obesity, poor diet, lack of physical activity or excessive drinking of alcohol. Other factors include certain infections, exposure to ionizing radiation, and environmental pollutants. In the developing world, 15% of cancers are due to infections such as ''Helicobacter pylori'', hepatitis B, hepatitis C, human papillomavirus infection, Epstein–Barr virus and human immunodeficiency virus (HIV). These factors act, at least partly, by changing the genes of ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Congenital Dyserythropoietic Anemia Type II
Congenital dyserythropoietic anemia type II (CDA II), or hereditary erythroblastic multinuclearity with positive acidified serum lysis test (HEMPAS) is a rare genetic anemia in humans characterized by hereditary erythroblastic multinuclearity with positive acidified serum lysis test. Presentation Genetics CDA type II is caused by mutations in the SEC23B gene. This gene provides instructions for making a protein that is involved in the transport of other proteins within cells. During the development of red blood cells, this protein may help ensure that proteins are transported to the areas where they are needed. Researchers are working to determine how mutations in the SEC23B gene lead to the signs and symptoms of CDA type II. Analyses of CDA II erythrocyte membranes showed that the band 3 glycoprotein is underglycosylated. An aberrant glycosylation pattern is seen in the polylactosamine carbohydrates which are normally attached to the band 3 and band 4.5 glycoproteins. The poly ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Marinesco–Sjögren Syndrome
Marinesco–Sjögren syndrome (MSS), sometimes spelled Marinescu–Sjögren syndrome, is a rare autosomal recessive disorder. Presentation The syndrome causes cerebellar ataxia (balance and coordination problems), intellectual disability, congenital cataracts in early childhood, muscle weakness, inability to chew food, thin brittle fingernails, and sparse hair.James, William; Berger, Timothy; Elston, Dirk (2005). ''Andrews' Diseases of the Skin: Clinical Dermatology''. (10th ed.). Saunders. . Small stature, mild to severe intellectual disability and dysarthria (slow, imprecise speech) are usually present. Various skeletal abnormalities (e.g., curvature of the spine) and hypergonadotropic hypogonadism often occur. Muscle weakness is progressive, but life expectancy is near normal. Cause Diagnosis Diagnosis of MSS is based on clinical symptoms, magnetic resonance imaging (MRI) of the brain (cerebellar atrophy particularly involving the cerebellar vermis), and muscle biopsy. It ca ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Micrometre
The micrometre ( international spelling as used by the International Bureau of Weights and Measures; SI symbol: μm) or micrometer (American spelling), also commonly known as a micron, is a unit of length in the International System of Units (SI) equalling (SI standard prefix "micro-" = ); that is, one millionth of a metre (or one thousandth of a millimetre, , or about ). The nearest smaller common SI unit is the nanometre, equivalent to one thousandth of a micrometre, one millionth of a millimetre or one billionth of a metre (). The micrometre is a common unit of measurement for wavelengths of infrared radiation as well as sizes of biological cells and bacteria, and for grading wool by the diameter of the fibres. The width of a single human hair ranges from approximately 20 to . The longest human chromosome, chromosome 1, is approximately in length. Examples Between 1 μm and 10 μm: * 1–10 μm – length of a typical bacterium * 3–8 μm – width of ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
