what is epa1 gene
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EPAS1 Function [edit]. The EPAS1 gene encodes half of a transcription factor involved in the induction of genes regulated by oxygen, which is induced as oxygen levels fall (hypoxia).he gene is active under low oxygen condition called hypoxia. It is also important in the development of the heart, and maintaining catecholamine balance required for protection of the heart. Mutation often leads to neuroendocrine tumors.
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HER2/neu HER2/neu. Receptor tyrosine-protein kinase erbB-2, also known as CD340 (cluster of differentiation 340), proto-oncogene Neu, Erbb2 (rodent), or ERBB2 (human), is a protein that in humans is encoded by the ERBB2 gene. It is also frequently called HER2 (from human epidermal growth factor receptor 2) or HER2/neu.
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An Introduction to Molecular Biology/Gene Expression The lac operon is an operon, or group of genes with a single promoter (transcribed as a single mRNA). The genes in the operon encode proteins that allow the bacteria to use lactose as an energy source.
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- The AA1 is a fully automated analyzer employing new technology based on segmented flow analysis for rapid, accurate, precise analysis of parameters such as ammonia, phosphate, nitrate, nitrite, total nitrogen, total phosphorous, and chloride.
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Alpha 1-antitrypsin deficiency Alpha-1 antitrypsin deficiency (A1AD or AATD) is a genetic disorder that may result in lung disease or liver disease. Onset of lung problems is typically between 20 and 50 years old. This may result in shortness of breath, wheezing, or an increased risk of lung infections.
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Alpha-1 antitrypsin deficiency Alpha-1 antitrypsin deficiency Alpha-1 antitrypsin deficiency is an inherited disorder that may cause lung disease and liver disease. The signs and symptoms of the condition and the age at which they appear vary among individuals.People with alpha-1 antitrypsin deficiency usually develop the first signs and symptoms of lung disease between ages 20 and 50.
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- The IVD gene provides instructions for making an enzyme called isovaleryl-CoA dehydrogenase. This enzyme plays an essential role in processing proteins obtained from the diet. Normally, the body breaks down proteins from food into smaller parts called amino acids.he official name of this gene is “isovaleryl-CoA dehydrogenase.”. IVD is the gene's official symbol. The IVD gene is also known by other names, listed below. Read more about gene names and symbols on the About page.
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Alpha-thalassemia From Wikipedia, the free encyclopedia. Alpha-thalassemia (α-thalassemia, α-thalassaemia) is a form of thalassemia involving the genes HBA1 and HBA2. Alpha-thalassemia is due to impaired production of alpha chains from 1,2,3, or all 4 of the alpha globin genes, leading to a relative excess of beta globin chains.
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- The SNCA gene provides instructions for making a small protein called alpha-synuclein. Alpha-synuclein is abundant in the brain, and smaller amounts are found in the heart, muscles, and other tissues.everal common variations in the SNCA gene have been found to increase the risk of multiple system atrophy, a progressive brain disorder that affects movement and balance and disrupts the function of the autonomic nervous system.
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Insulin-like growth factor 1 View/Edit Mouse. Insulin-like growth factor 1 (IGF-1), also called somatomedin C, is a protein that in humans is encoded by the IGF1 gene. IGF-1 has also been referred to as a sulfation factor and its effects were termed nonsuppressible insulin-like activity (NSILA) in the 1970s. IGF-1 is a hormone similar in molecular structure to insulin. It plays an important role in childhood growth and continues to have anabolic effects in adults. A synthetic analog of IGF-1, mecasermin, is used for the treatment of growth failure.
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- Because it mediates the influence of AVP, the AVP receptor 1a (AVPR1a) is a candidate gene for autism. Although it remains a prominent candidate gene for the disorder, evidence from two association studies have found only a weak positive association.
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Learning About Alpha-1 Antitrypsin Deficiency (AATD) Alpha-1 antitrypsin (AAT) is a protein that is made in the liver. The liver releases this protein into the bloodstream. AAT protects the lungs so they can work normally. Without enough AAT, the lungs can be damaged, and this damage may make breathing difficult.
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EPA and DHA: What Are They and Why Do They Matter? Eicosapentaenoic acid (EPA) and docosahexaenoic acid (DHA) are two converted types of omega 3 essential fats found in fatty, cold-water fish such as mackerel, sardines, salmon, herring, halibut, trout, anchovies, and tuna.
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- FAAH fatty acid amide hydrolase [ (human)] Gene ID: 2166, updated on 5-Feb-2017. Summary. This gene encodes a protein that is responsible for the hydrolysis of a number of primary and secondary fatty acid amides, including the neuromodulatory compounds anandamide and oleamide. [provided by RefSeq, Jul 2008] fatty-acid amide hydrolase 1, anandamide amidohydrolase 1, oleamide hydrolase 1.
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IGF2 gene Normal Function. The IGF2 gene provides instructions for making a protein called insulin-like growth factor 2. This protein plays an essential role in growth and development before birth. Studies suggest that insulin-like growth factor 2 promotes the growth and division (proliferation) of cells in many different tissues. Although the IGF2 gene is highly active during fetal development, it is much less active after birth.
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PRKNGene  (Protein Coding) Entrez Gene Summary for PARK2 Gene. The precise function of this gene is unknown; however, the encoded protein is a component of a multiprotein E3 ubiquitin ligase complex that mediates the targeting of substrate proteins for proteasomal degradation.
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Kevin Conrad Risk genes increase the likelihood of developing a disease, but do not guarantee it will happen. Scientists have so far identified several risk genes implicated in Alzheimer's disease. The risk gene with the strongest influence is called apolipoprotein E-e4 (APOE-e4). Scientists estimate that APOE-e4 may be a factor in 20 to 25 percent of Alzheimer's cases. APOE-e4 is one of three common forms of the APOE gene; the others are APOE-e2 and APOE-e3.
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- EPA (eicosapentaenoic acid) and DHA (docosahexaenoic acid) are the two principal omega-3 fatty acids. The body has a limited ability to manufacture EPA and DHA by converting the essential fatty acid, alpha-linolenic acid (ALA) which is found in flaxseed oil, canola oil or walnuts. Omega-3 fish oil is considered a nutraceutical, a food that provides health benefits.
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Actin, alpha 1 Actin, alpha 1. Actin, alpha skeletal muscle is a protein that in humans is encoded by the ACTA1 gene. Actin alpha 1 which is expressed in skeletal muscle is one of six different actin isoforms which have been identified. Actins are highly conserved proteins that are involved in cell motility, structure and integrity. Alpha actins are a major constituent of the contractile apparatus.
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Heme The following genes are part of the chemical pathway for making heme: 1  ALAD: aminolevulinic acid, δ-, dehydratase (deficiency causes ala-dehydratase deficiency porphyria) 2  ALAS1: aminolevulinate, δ-, synthase 1. 3  ALAS2: aminolevulinate, δ-, synthase 2 (deficiency causes sideroblastic/hypochromic anemia)
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ASPA gene The ASPA gene provides instructions for making an enzyme called aspartoacylase. In the brain, this enzyme breaks down a compound called N-acetyl-L-aspartic acid (NAA) into aspartic acid (an amino acid that is a building block of many proteins) and another molecule called acetic acid.
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KRT1 gene The KRT1 gene provides instructions for making a protein called keratin 1. Keratins are a group of tough, fibrous proteins that form the structural framework of cells called keratinocytes that make up the skin, hair, and nails.he KRT1 gene provides instructions for making a protein called keratin 1. Keratins are a group of tough, fibrous proteins that form the structural framework of cells called keratinocytes that make up the skin, hair, and nails.
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Lipoprotein (a) Lipoprotein(a) (also called Lp(a) or LPA) is a lipoprotein subclass. Genetic studies and numerous epidemiologic studies have identified Lp(a) as a risk factor for atherosclerotic diseases such as coronary heart disease and stroke. Lipoprotein(a) was discovered in 1963 by Kare Kåre berg and the human gene encoding(apolipoprotein) a was cloned in. 1987
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- The LPL gene provides instructions for making an enzyme called lipoprotein lipase. This enzyme is found primarily on the surface of cells that line tiny blood vessels (capillaries) within muscles and in fatty (adipose) tissue.he official name of this gene is “lipoprotein lipase.”. LPL is the gene's official symbol. The LPL gene is also known by other names, listed below. Read more about gene names and symbols on the About page.
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- Epadel is the company's proprietary agent used in the treatment of hyperlipemia. His medical history included coronary artery disease, hypertension, insulin-dependent diabetes mellitus, hyperlipemia, obesity, jejunostomy, tracheostomy, and dysphagia.
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TUBA1A gene The TUBA1A gene provides instructions for making a protein called alpha-tubulin (α-tubulin). This protein is part of the tubulin family of proteins that form and organize structures called microtubules.Microtubules are rigid, hollow fibers that make up the cell's structural framework (the cytoskeleton).They are composed of α-tubulin and a similar protein called beta-tubulin (β-tubulin) that is produced from a different gene.he TUBA1A gene provides instructions for making a protein called alpha-tubulin (α-tubulin). This protein is part of the tubulin family of proteins that form and organize structures called microtubules.