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Genes

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APOB

The APOB gene provides instructions for making two versions of the apolipoprotein B protein, a short version called apolipoprotein B-48 and a longer version known as apolipoprotein B-100. Both of these proteins are components of lipoproteins, which a
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APOE

The APOE gene provides instructions for making a protein called apolipoprotein E. This protein combines with fats (lipids) in the body to form molecules called lipoproteins. Lipoproteins are responsible for packaging cholesterol and other fats and ca
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APP

The APP gene provides instructions for making a protein called amyloid precursor protein. This protein is found in many tissues and organs, including the brain and spinal cord (central nervous system). Little is known about the function of amyloid pr
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APRT

The APRT gene provides instructions for making an enzyme called adenine phosphoribosyltransferase (APRT). This enzyme is produced in all cells and is part of the purine salvage pathway, which recycles a group of DNA building blocks (nucleotides) call
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APTX

The APTX gene provides instructions for making a protein called aprataxin that is involved in the repair of DNA damage in cells. Aprataxin is located in the nucleus of cells and is produced in various tissues, including the brain, spinal cord, and mu
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AQP2

The AQP2 gene provides instructions for making a protein called aquaporin 2. This protein forms a channel that carries water molecules across cell membranes. It is found in the kidneys in structures called collecting ducts, which are a series of smal
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AR

The AR gene provides instructions for making a protein called an androgen receptor. Androgens are hormones (such as testosterone) that are important for normal male sexual development before birth and during puberty. Androgen receptors allow the body
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ARFGEF2

The ARFGEF2 gene provides instructions for making a protein that helps with the movement (trafficking) of small sac-like structures (vesicles) within the cell. The ARFGEF2 protein converts a molecule called guanine diphosphate (GDP) to another molecu
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ARG1

The ARG1 gene provides instructions for producing the enzyme arginase. This enzyme participates in the urea cycle, a series of reactions that occurs in liver cells. The urea cycle processes excess nitrogen, which is generated when proteins and their
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ARHGAP31

The ARHGAP31 gene provides instructions for making a protein classified as a Rho GTPase activating protein (GAP). GAPs turn off (inactivate) proteins called GTPases, which play an important role in chemical signaling within cells. Often referred to a
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ARID1A

The ARID1A gene provides instructions for making a protein that forms one piece (subunit) of several different SWI/SNF protein complexes. SWI/SNF complexes regulate gene activity (expression) by a process known as chromatin remodeling. Chromatin is t
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ARID1B

The ARID1B gene provides instructions for making a protein that forms one piece (subunit) of several different SWI/SNF protein complexes. SWI/SNF complexes regulate gene activity (expression) by a process known as chromatin remodeling. Chromatin is t
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