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ELA2
ELA2 The gene encoding the enzyme elastase 2 (neutrophilic elastase). Mutations in ELA2 cause cyclic neutropenia.
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Gene
1. A unit of DNA that carries information for the biosynthesis of a specific product in the cell. 2. Ultimate unit by which inheritable characteristics are transmitted to succeeding generations in all living organisms. Genes are contained by, and arranged along the length of, the chromosome. The gene is composed of deoxyribonucleic acid (DNA). Each chromosome of each species has a definite number and arrangement of genes, which govern both the structure and metabolic functions of the cells and thus of the entire organism.
Enzyme
A cellular protein whose shape allows it to hold together several other molecules in close proximity to each other. In this way, enzymes are able to induce chemical reactions in other substances with little expenditure of energy and without being changed themselves. Basically, an enzyme acts as a catalyst.
Elastase
An enzyme that digests and degrades a number of proteins including elastin, an elastic substance in the lungs and some other organs that supports their structural framework. Elastase is specifically inhibited by alpha-1 antitrypsin.
ELA2
The gene encoding the enzyme elastase 2 (neutrophilic elastase). Mutations in ELA2 cause cyclic neutropenia.
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Eicosapentaenoic acid
One of the principal omega-3 fatty acids. Abbreviated EPA. The body has a limited ability to manufacture EPA by converting the essential fatty acid, alpha-linolenic acid (ALA) which is found in flaxseed oil, canola oil or walnuts.
Eight-day measles
An acute highly contagious viral disease with fever, runny nose, cough, red eyes, and a spreading skin rash. The eight-day measles is the ordinary measles, also known as rubeola, a potentially disastrous disease. Measles may be complicated by ear infections, pneumonia, encephalitis (that can cause convulsions, mental retardation. and even death), the sudden onset of low blood platelet levels with severe bleeding (acute thrombocytopenic purpura) or a chronic brain disease that occurs months to often years after an attack of measles (subacute sclerosing panencephalitis). During pregnancy measles may trigger miscarriages or premature delivery. Measles can be prevented through vaccination. The disease is also called the hard measles and (depending on how long you think it lasts) the seven- day measles, the nine-day measles, or the ten-day measles, and morbilli.
Eighth cranial nerve
The eighth cranial nerve is the vestibulocochlear nerve. The vestibulocochlear nerve is responsible for the sense of hearing and it is also pertinent to balance, to the body position sense. Problems with the vestibulocochlear nerve may result in deafness, tinnitus (ringing or noise in the ears), dizziness, vertigo and vomiting. The 12 cranial nerves, the vestibulocochlear nerve included, emerge from or enter the skull (the cranium), as opposed to the spinal nerves which emerge from the vertebral column.
Eisoptrophobia
An abnormal and persistent fear of mirrors. Sufferers experience undue anxiety even though they realize their fear is irrational. Because their fear often is grounded in superstitions, they may worry that breaking a mirror will bring bad luck or that looking into a mirror will put them in contact with a supernatural world inside the glass.
Ejaculatory duct
A canal in the male formed by union of the vas deferens and the duct from the seminal vesicle. The ejaculatory duct passes through the prostate. Semen passes through them at the time of ejaculation.
ELA2
Elastase
An enzyme that digests and degrades a number of proteins including elastin, an elastic substance in the lungs and some other organs that supports their structural framework. Elastase is specifically inhibited by alpha-1 antitrypsin.
Elastase 1
Pancreatic elastase, a member of the pancreatic family of serine proteases. Although termed elastase, this powerful protease can hydrolyze numerous proteins, including elastin. The gene ELA1 that encodes elastase 1 is on chromosome 12q13.
Elastase 2
Neutrophil elastase, an enzyme in neutrophils that digests elastin. The gene ELA2 encoding elastase 2 is on chromosome 19p13,3. Mutations in ELA2 cause cyclic neutropenia, a blood disease in which there are regular cyclic fluctuations in the numbers of neutrophils and other blood cells. The cycles are classically 21 days but may range from 15 to 35 days. Patients with the disease typically have regularly recurring symptoms of fever, malaise, mucosal ulcers, and are at risk for life-threatening infections during periods of neutropenia.
Elastic fiber
A slender fiber in connective tissue that is rich in the protein elastin and has an elastic quality.
Elastin
A protein that coil and recoils like a spring within the elastic fibers of connective tissue and accounts for the elasticity of structures such the skin, blood vessels, heart, lungs, intestines, tendons, and ligaments. Elastin functions in connective tissue together with collagen. Whereas elastin provides elasticity, collagen provides rigidity to connective tissue. Elastin is normally no longer made after puberty and aging begins. Also called elasticin.
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