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Genes

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DSPP

The DSPP gene provides instructions for making a protein called dentin sialophosphoprotein. Soon after it is produced, this protein is cut into two smaller proteins: dentin sialoprotein and dentin phosphoprotein. These proteins are components of dent
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DUOX2

The DUOX2 gene provides instructions for making an enzyme called dual oxidase 2. This enzyme is found in the thyroid gland, which is a butterfly-shaped tissue in the lower neck. The enzyme is also found in salivary glands, the digestive tract, and ai
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DUX4

The DUX4 gene is located near the end of chromosome 4 in a region known as D4Z4. This region consists of 11 to more than 100 repeated segments, each of which is about 3,300 DNA base pairs (3.3 kb) long. The entire D4Z4 region is normally hypermethyla
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DVL1

The DVL1 gene provides instructions for making a protein that plays a critical role in development before birth. It is one of three DVL genes in humans ( DVL1 , DVL2 , and DVL3 ). The proteins produced from these genes work together in chemical signa
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DVL3

The DVL3 gene provides instructions for making a protein that plays a critical role in development before birth. It is one of three DVL genes in humans ( DVL1 , DVL2 , and DVL3 ). The proteins produced from these genes work together in chemical signa
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DYNC1H1

The DYNC1H1 gene provides instructions for making a protein that is part of a group (complex) of proteins called dynein. This complex is found in the fluid inside cells (cytoplasm). Dynein is turned on (activated) by attaching (binding) to another co
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DYNC2H1

The DYNC2H1 gene provides instructions for making a protein that is part of a group (complex) of proteins called dynein-2. The dynein-2 complex is found in cell structures known as cilia. Cilia are microscopic, finger-like projections that stick out
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DYRK1A

The DYRK1A gene provides instructions for making an enzyme that is important in the development of the nervous system. The DYRK1A enzyme is a kinase, which means that it adds a cluster of oxygen and phosphorus atoms (a phosphate group) to other prote
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DYSF

The DYSF gene provides instructions for making a protein called dysferlin. This protein is found in the thin membrane that surrounds muscle fibers, which is called the sarcolemma. Dysferlin is thought to play an important role in repairing the sarcol
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EARS2

The EARS2 gene provides instructions for making an enzyme called mitochondrial glutamyl-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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EBP

The EBP gene provides instructions for making an enzyme called 3β-hydroxysteroid-Δ8,Δ7-isomerase. This enzyme is responsible for one of the final steps in the production of cholesterol. Specifically, it converts a molecule called 8(9)-cholestenol to
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ECM1

The ECM1 gene provides instructions for making a protein that is found in most tissues within the extracellular matrix, which is an intricate lattice that forms in the space between cells and provides structural support. The ECM1 protein can attach (
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