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Hermansky–Pudlak Syndrome
Heřmanský–Pudlák syndrome (often written Hermansky–Pudlak syndrome or abbreviated HPS) is an extremely rare autosomal recessive disorder which results in Albinism, oculocutaneous albinism (decreased pigmentation), bleeding problems due to a platelet abnormality (platelet storage pool defect), and storage of an abnormal fat-protein compound (lysosome, lysosomal accumulation of ceroid lipofuscin). It is thought to affect around 1 in 500,000 people worldwide, with a significantly higher occurrence in Puerto Rico, Puerto Ricans, with a prevalence of 1 in 1800. Many of the clinical research studies on the disease have been conducted in Puerto Rico. There are eight classic forms of the disorder, based on the genetic mutation from which the disorder stems. It is named for František Heřmanský (1916–1980) and Pavel Pudlák (1927–1993). Signs and symptoms There are three main disorders caused by Hermansky–Pudlak syndrome, which result in these symptoms: * Albinism and eye ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Autosomal
An autosome is any chromosome that is not a sex chromosome. The members of an autosome pair in a diploid cell have the same morphology, unlike those in allosomal (sex chromosome) pairs, which may have different structures. The DNA in autosomes is collectively known as atDNA or auDNA. For example, humans have a diploid genome that usually contains 22 pairs of autosomes and one allosome pair (46 chromosomes total). The autosome pairs are labeled with numbers (1–22 in humans) roughly in order of their sizes in base pairs, while allosomes are labelled with their letters. By contrast, the allosome pair consists of two X chromosomes in females or one X and one Y chromosome in males. Unusual combinations XYY, XXY, XXX, XXXX, XXXXX or XXYY, among other irregular combinations, are known to occur and usually cause developmental abnormalities. Autosomes still contain sexual determination genes even though they are not sex chromosomes. For example, the SRY gene on the Y chrom ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
HPS6
Hermansky–Pudlak syndrome 6 (HPS6), also known as ruby-eye protein homolog (Ru), is a protein that in humans is encoded by the ''HPS6'' gene. Function This intronless gene encodes a protein that may play a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes. HPS6 along with HPS3 and HPS5 form a stable protein complex named Biogenesis of Lysosome-related Organelles Complex-2 (BLOC-2). Clinical significance Mutations in this gene are associated with Hermansky–Pudlak syndrome Heřmanský–Pudlák syndrome (often written Hermansky–Pudlak syndrome or abbreviated HPS) is an extremely rare autosomal recessive disorder which results in Albinism, oculocutaneous albinism (decreased pigmentation), bleeding problems due to a ... type 6 characterized by albinism and prolonged bleeding. References Further reading * * * * * * External links GeneReviews/NCBI/NIH/UW entry on Hermansky–Pudlak syndrome {{gene-10-stub ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Medscape
Medscape is a website providing access to medical information for clinicians and medical scientists; the organization also provides continuing education for physicians and other health professionals. It references medical journal articles, Continuing Medical Education (CME), a version of the National Library of Medicine's MEDLINE database, medical news, and drug information (Medscape Drug Reference, or MDR). At one time Medscape published seven electronic peer reviewed journals. History Medscape launched May 22, 1995, by SCP Communications, Inc. under the direction of its CEO Peter Frishauf. The first editor of Medscape was a P.A. named Stephen Smith. In 1999, George D. Lundberg became the editor-in-chief of Medscape. For seventeen years before joining Medscape he served as editor of the ''Journal of the American Medical Association''. In September 1999, Medscape, Inc. went public and began trading on NASDAQ under the symbol MSCP. In 2000, Medscape merged with MedicaLogic, In ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Adenosine Diphosphate
Adenosine diphosphate (ADP), also known as adenosine pyrophosphate (APP), is an important organic compound in metabolism and is essential to the flow of energy in living cells. ADP consists of three important structural components: a sugar backbone attached to adenine and two phosphate groups bonded to the 5 carbon atom of ribose. The diphosphate group of ADP is attached to the 5’ carbon of the sugar backbone, while the adenine attaches to the 1’ carbon. ADP can be interconverted to adenosine triphosphate (ATP) and adenosine monophosphate (AMP). ATP contains one more phosphate group than ADP, while AMP contains one fewer phosphate group. Energy transfer used by all living things is a result of dephosphorylation of ATP by enzymes known as ATPases. The cleavage of a phosphate group from ATP results in the coupling of energy to metabolic reactions and a by-product of ADP. ATP is continually reformed from lower-energy species ADP and AMP. The biosynthesis of ATP is achieved th ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Epinephrine
Adrenaline, also known as epinephrine, is a hormone and medication which is involved in regulating visceral functions (e.g., respiration). It appears as a white microcrystalline granule. Adrenaline is normally produced by the adrenal glands and by a small number of neurons in the medulla oblongata. It plays an essential role in the fight-or-flight response by increasing blood flow to muscles, heart output by acting on the SA node, pupil dilation response, and blood sugar level. It does this by binding to alpha and beta receptors. It is found in many animals, including humans, and some single-celled organisms. It has also been isolated from the plant '' Scoparia dulcis'' found in Northern Vietnam. Medical uses As a medication, it is used to treat several conditions, including allergic reaction anaphylaxis, cardiac arrest, and superficial bleeding. Inhaled adrenaline may be used to improve the symptoms of croup. It may also be used for asthma when other treatments are ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Thrombin
Prothrombin (coagulation factor II) is encoded in the human by the F2-gene. It is proteolytically cleaved during the clotting process by the prothrombinase enzyme complex to form thrombin. Thrombin (Factor IIa) (, fibrose, thrombase, thrombofort, topical, thrombin-C, tropostasin, activated blood-coagulation factor II, E thrombin, beta-thrombin, gamma-thrombin) is a serine protease, that converts fibrinogen into strands of insoluble fibrin, as well as catalyzing many other coagulation-related reactions. History After the description of fibrinogen and fibrin, Alexander Schmidt hypothesised the existence of an enzyme that converts fibrinogen into fibrin in 1872. Prothrombin was discovered by Pekelharing in 1894. Physiology Synthesis Thrombin is produced by the enzymatic cleavage of two sites on prothrombin by activated Factor X (Xa). The activity of factor Xa is greatly enhanced by binding to activated Factor V (Va), termed the prothrombinase complex. Prothrombin is prod ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Platelets
Platelets or thrombocytes () are a part of blood whose function (along with the coagulation factors) is to react to bleeding from blood vessel injury by clumping to form a blood clot. Platelets have no cell nucleus; they are fragments of cytoplasm from megakaryocytes which reside in bone marrow or lung tissue, and then enter the circulation. Platelets are found only in mammals, whereas in other vertebrates (e.g. birds, amphibians), thrombocytes circulate as intact mononuclear cells. One major function of platelets is to contribute to hemostasis: the process of stopping bleeding at the site where the lining of vessels (endothelium) has been interrupted. Platelets gather at the site and, unless the interruption is physically too large, they plug the hole. First, platelets attach to substances outside the interrupted endothelium: ''adhesion''. Second, they change shape, turn on receptors and secrete chemical messengers: ''activation''. Third, they connect to each other throu ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
BLOC1S2
Biogenesis of lysosome-related organelles complex 1 subunit 2 is a protein that in humans is encoded by the ''BLOC1S2'' 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: protei .... Interactions BLOC1S2 has been shown to interact with BLOC1S1, SNAPAP, MUTED, CNO and PLDN. References External links * Further reading * * * * * * * * {{gene-10-stub ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
BLOC1
BLOC-1 or biogenesis of lysosome-related organelles complex 1 is a ubiquitously expressed multisubunit protein complex in a group of complexes that also includes BLOC-2 and BLOC-3. BLOC-1 is required for normal biogenesis of specialized organelles of the endosomal-lysosomal system, such as melanosomes and platelet dense granules. These organelles are called LROs ( lysosome-related organelles) which are apparent in specific cell-types, such as melanocytes. The importance of BLOC-1 in membrane trafficking appears to extend beyond such LROs, as it has demonstrated roles in normal protein-sorting, normal membrane biogenesis, as well as vesicular trafficking. Thus, BLOC-1 is multi-purposed, with adaptable function depending on both organism and cell-type. Components The identified protein subunits of BLOC-1 include: * pallidin * muted (protein) * dysbindin * cappuccino (protein) * snapin * BLOS1 * BLOS2 * BLOS3 Structure Ultracentrifugation coupled with electron micros ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
DTNBP1
Dysbindin, short for dystrobrevin-binding protein 1, is a protein constituent of the dystrophin-associated protein complex (DPC) of skeletal muscle cells. It is also a part of BLOC-1, or biogenesis of lysosome-related organelles complex 1.In humans, dysbindin is encoded by the ''DTNBP1'' gene. Discovery Dysbindin was discovered by the research group of Derek Blake via yeast two-hybrid screening for binding partners of α-dystrobrevin. Tissue distribution Dysbindin is found in neural tissue of the brain, particularly in axon bundles and especially in certain axon terminals, notably mossy fiber synaptic terminals in the cerebellum and hippocampus. Structure Dysbindin is a coiled-coil-containing protein that serves as a core, stable component of the biogenesis of lysosome-related organelles complex 1 (BLOC-1), a multisubunit complex involved in intracellular protein trafficking and synaptic function. Structurally, dysbindin engages in direct interactions with other ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Chromosome 10
Chromosome 10 is one of the 23 pairs of chromosomes in humans. People normally have two copies of this chromosome. Chromosome 10 spans about 134 million base pairs (the building material of DNA) and represents between 4 and 4.5 percent of the total DNA in cell (biology), cells. Genes Number of genes The following are some of the gene count estimates of human chromosome 10. Because researchers use different approaches to genome annotation their predictions of the number of genes on each chromosome varies (for technical details, see gene prediction). Among various projects, the collaborative consensus coding sequence project (Consensus CDS Project, CCDS) takes an extremely conservative strategy. So CCDS's gene number prediction represents a lower bound on the total number of human protein-coding genes. Gene list The following is a partial list of genes on human chromosome 10. For complete list, see the link in the infobox on the right. Diseases and disorders The following dise ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
