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Genes

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GAA

The GAA gene provides instructions for producing an enzyme called acid alpha-glucosidase (also known as acid maltase). This enzyme is active in lysosomes, which are structures that serve as recycling centers within cells. Lysosomes use digestive enzy
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GABRA1

The GABRA1 gene provides instructions for making one piece, the alpha-1 (α1) subunit, of the GABA A receptor protein. GABA A receptors are made up of different combinations of five protein subunits, each produced from a different gene. (Nineteen diff
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GALC

The GALC gene provides instructions for making an enzyme called galactosylceramidase. Through a process called hydrolysis, this enzyme uses water molecules to break down certain fats called galactolipids, which are found primarily in the nervous syst
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GALE

The GALE gene provides instructions for making an enzyme called UDP-galactose-4-epimerase. This enzyme enables the body to process a simple sugar called galactose, which is present in small amounts in many foods. Galactose is primarily part of a larg
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GALK1

The GALK1 gene provides instructions for making an enzyme called galactokinase 1. This enzyme enables the body to process a simple sugar called galactose, which is present in small amounts in many foods. Galactose is primarily part of a larger sugar
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GALNS

The GALNS gene provides instructions for producing an enzyme called N-acetylgalactosamine 6-sulfatase. This enzyme is located in lysosomes, which are compartments within cells that break down and recycle different types of molecules. N-acetylgalactos
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GALNT3

The GALNT3 gene provides instructions for making a protein called ppGalNacT3, which is found in many types of cells. This protein plays a major role in regulating phosphate levels within the body (phosphate homeostasis). Among its many functions, pho
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GALT

The GALT gene provides instructions for making an enzyme called galactose-1-phosphate uridylyltransferase. This enzyme enables the body to process a simple sugar called galactose, which is present in small amounts in many foods. Galactose is primaril
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GAMT

The GAMT gene provides instructions for making the enzyme guanidinoacetate methyltransferase, which is active (expressed) mainly in the liver. This enzyme participates in the two-step production (synthesis) of the compound creatine from the protein b
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GAN

The GAN gene provides instructions for making a protein called gigaxonin. Gigaxonin is part of the ubiquitin-proteasome system, which is a multi-step process that identifies and gets rid of excess or damaged proteins or structures (organelles) within
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GARS1

The GARS1 gene provides instructions for making an enzyme called glycine—tRNA ligase. This enzyme is found in all cell types and plays an important role in the production of proteins. During protein production, protein building blocks (amino acids) a
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GATA1

The GATA1 gene provides instructions for making a protein that attaches (binds) to specific regions of DNA and helps control the activity of many other genes. On the basis of this action, the GATA1 protein is known as a transcription factor. By bindi
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