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Genes
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Genes

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GUSB

The GUSB gene provides instructions for producing an enzyme called beta-glucuronidase (β-glucuronidase). This enzyme is located in lysosomes, compartments within cells that digest and recycle different types of molecules. β-glucuronidase is involved
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GYS1

The GYS1 gene provides instructions for making an enzyme called muscle glycogen synthase. Muscle glycogen synthase is produced in most cells but is most abundant in heart (cardiac) muscle and muscles used for movement (skeletal muscles). Muscle glyco
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GYS2

The GYS2 gene provides instructions for making an enzyme called liver glycogen synthase. Liver glycogen synthase is produced solely in liver cells, where it helps form the complex sugar glycogen by linking together molecules of the simple sugar gluco
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H19

The H19 gene provides instructions for making a molecule of RNA, a chemical cousin of DNA. This RNA molecule is noncoding, which means that it does not contain instructions for making a protein. Researchers believe that this noncoding RNA acts as a t
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HADH

The HADH gene provides instructions for making an enzyme called 3-hydroxyacyl-CoA dehydrogenase that is important for converting certain fats to energy. This enzyme is involved in a process called fatty acid oxidation, in which several enzymes work i
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HADHA

The HADHA gene provides instructions for making part of an enzyme complex called mitochondrial trifunctional protein. This enzyme complex functions in mitochondria, the energy-producing centers within cells. Mitochondrial trifunctional protein is mad
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HADHB

The HADHB gene provides instructions for making part of an enzyme complex called mitochondrial trifunctional protein. This enzyme complex functions in mitochondria, the energy-producing centers within cells. Mitochondrial trifunctional protein is mad
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HAL

The HAL gene provides instructions for making an enzyme called histidase. Histidase breaks down the amino acid histidine, which acts as a building block for many different proteins. Histidase is active (expressed) primarily in the liver and the skin.
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HARS2

The HARS2 gene provides instructions for making an enzyme called mitochondrial histidyl-tRNA synthetase. This enzyme is important in the production (synthesis) of proteins in cellular structures called mitochondria, the energy-producing centers in ce
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HAX1

The HAX1 gene provides instructions for making a protein called HS-1-associated protein X-1 (HAX-1). This protein is involved in the regulation of apoptosis, which is the process by which cells self-destruct when they are damaged or no longer needed.
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HBA1

The HBA1 gene provides instructions for making a protein called alpha-globin. This protein is also produced from a nearly identical gene called HBA2 . These two alpha-globin genes are located close together in a region of chromosome 16 known as the a
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HBA2

The HBA2 gene provides instructions for making a protein called alpha-globin. This protein is also produced from a nearly identical gene called HBA1 . These two alpha-globin genes are located close together in a region of chromosome 16 known as the a
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