Gain-of-function mutation
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  Gain-of-function mutation



Gain-of-function mutation

   A mutation that confers new or enhanced activity on a protein. Loss-of-function mutations, which are more common, result in reduced or abolished protein function.

RELATED TERMS
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Mutation
A change in DNA that alters a gene and thus the gene's product, leading in some cases to deformity or disease. Mutations can occur spontaneously during cell division or can be triggered by environmental stresses, such as sunlight, radiation, and chemicals.

Protein
Any of a group of complex organic compounds which contain carbon, hydrogen, oxygen, nitrogen, and usually sulfur, the characteristic element being nitrogen. Proteins, the principal constituents of the protoplasm of all cells, are of high molecular weight and consist essentially of combinations of a-amino acids in peptide linkages. Twenty different amino acids are commonly found in proteins, and each protein has a unique genetically defined amino acid sequence which determines its specific shape and function. Their roles include enzymatic catalysis, transport and storage, coordinated motion, nerve impulse generation and many others.



SIMILAR TERMS
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G (drug caution code)
Abbreviation on a medication that stands for "glaucoma" and indicates the medication can cause problems for a person with this eye disorder. Further, a person with glaucoma might see the generic "C" code on a prescription bottle or vial if the medication might raise the pressure within the eye.

G protein
These molecules have been described as "biological traffic lights." Located inside the cell, G proteins are able respond to signals outside the cell -- light, smell, hormones -- and translate (transduce) these signals into action within the cell.

G-CSF
Granulocyte colony-stimulating factor. A colony-stimulating factor that stimulates the production of neutrophils (a type of white blood cell). G-CSF is a cytokine that belongs to the family of drugs called hematopoietic (blood-forming) agents.

G6PD deficiency
Deficiency of the enzyme glucose-6-phosphate dehydrogenase (G6PD), the most common enzyme defect of medical importance. About 10 percent of American black males have G6PD deficiency, as do a lesser percent of black females. G6PD deficiency is also increased in frequency in people of Mediterranean origin (including Italians, Greeks, Arabs, and Jews). The gene encoding G6PD is on the X chromosome. Males with this enzyme deficiency may develop anemia due to the breakup of their red blood cells when they are exposed to oxidant drugs, naphthalene moth balls, or fava beans. The offending drugs include the antimalarial primaquine, salicylates, sulfonamide antibiotics, nitrofurans, phenacetin, and some vitamin K derivatives. Fever, viral and bacterial infections, and diabetic acidosis can also precipitate a hemolytic crisis (when the red blood cells break up), resulting in anemia and jaundice. The concentration of G6PD deficiency in certain populations is believed to reflect a protective effect it afforded (much like sickle cell trait) against malaria.

GAD
Generalized anxiety disorder.

Gain-of-function mutation

Galeophobia
An abnormally large and persistent fear of sharks. Sufferers from this phobia experience anxiety even though they may be safe on a boat or in an aquarium or on a beach. Hollywood films depicting sharks as calculating, vengeful diabolical monsters have no doubt enkindled the fear of sharks in many persons. So have validated reports of sharks venturing into rivers and lakes.

Gallbladder absence
This condition, also known as agenesis (failure of development) of the gallbladder, occurs in approximately one out of every 1,000 people. Gallbladder agenesis is an isolated abnormality in more than two-thirds (70%) of people with agenesis. The person with isolated agenesis of the gallbladder is healthy. No treatment is needed. The prognosis (outlook) is excellent.

Gallbladder agenesis
This is a condition in which the gallbladder fails to develop. This happens in approximately one out of every 1,000 people. Gallbladder agenesis is an isolated finding in more than two-thirds (70%) of people. The person with isolated gallbladder agenesis is healthy. No treatment is needed, and the prognosis (outlook) is excellent.

Gallium
A rare metal with the atomic weight of 69. There are several isotopic forms of gallium that differ from it in atomic weight. One is gallium-68 which is produced by cyclotrons and emits gamma rays. The citrate form of gallium-68 is used as a radiotracer to locate sites of inflammation and tumor tissue within the body.

Gallop rhythm
Heart rhythm like the gallop of a horse.

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