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Genes

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CASR

The CASR gene provides instructions for making a protein called the calcium-sensing receptor (CaSR). Calcium molecules bind to CaSR, which allows this protein to monitor and regulate the amount of calcium in the blood. The CaSR protein is found in ce
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CAT

The CAT gene provides instructions for making pieces (subunits) of an enzyme called catalase. Four identical subunits, each attached (bound) to an iron-containing molecule called a heme group, form the functional enzyme. Catalase is active in cells a
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CATSPER1

The CATSPER1 gene provides instructions for producing a protein that is found in the tail (flagellum) of sperm cells. The CATSPER1 protein plays a role in sperm cell movement (motility). It is one of four proteins that together form a hole (pore) tha
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CATSPER2

The CATSPER2 gene provides instructions for producing a protein that is found in the tail (flagellum) of sperm cells. The CATSPER2 protein plays a role in sperm cell movement (motility). It is one of four proteins that together form a hole (pore) tha
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CAV1

The CAV1 gene provides instructions for making a protein called caveolin-1. This protein appears to have diverse functions in cells and tissues throughout the body. Caveolin-1 is the major component of caveolae, which are small pouches in the membran
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CAV3

The CAV3 gene provides instructions for making a protein called caveolin-3, which is found in the membrane surrounding muscle cells. This protein is the main component of caveolae, which are small pouches in the muscle cell membrane. Within the caveo
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CAVIN1

The CAVIN1 gene provides instructions for making a protein called cavin-1. This protein is found in cells and tissues throughout the body. It is most abundant in several types of cells: osteoblasts, which are cells that build bones; muscle cells; and
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CBFB

The CBFB gene provides instructions for making a protein called core binding factor beta (CBFβ), which is one piece of a protein complex known as core binding factor (CBF). CBFβ attaches (binds) to one of three related RUNX proteins (RUNX1, RUNX2, or
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CBS

The CBS gene provides instructions for making an enzyme called cystathionine beta-synthase. This enzyme acts in a chemical pathway and is responsible for using vitamin B6 to convert building block of proteins (amino acid) called homocysteine and seri
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CCBE1

The CCBE1 gene provides instructions for making a protein that is found in the extracellular matrix, which is the lattice of proteins and other molecules that forms in the spaces between cells. Early in development, the CCBE1 protein is involved in t
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CCDC40

The CCDC40 gene provides instructions for making a protein that is involved in the assembly of a larger group of proteins (a complex) called dynein. Dynein functions within cell structures called cilia and flagella. Cilia are microscopic, finger-like
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CCM2

The CCM2 gene provides instructions for making a protein called malcavernin, which strengthens the interactions between cells that form blood vessels and limits leakage from the vessels. Malcavernin interacts with a number of other proteins to form a
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