CTNS

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CTNS (pronounced as "see-tee-en-es") is an acronym that stands for Cystinosin, lysosomal cystine transporter. It is a gene that provides instructions for making a protein that is critical for normal function of lysosomes.

Etymology

The term CTNS is derived from the words Cystinosin, which refers to the protein that the CTNS gene produces, and lysosomal cystine transporter, which describes the function of the protein.

Function

The protein produced by the CTNS gene is found in the lysosome, a small organelle that breaks down waste materials and cellular debris. This protein transports a molecule called cystine out of lysosomes. Without the action of the cystinosin protein, cystine can build up in cells and form crystals that can damage tissues and organs.

Related Terms

  • Cystinosis: A condition characterized by accumulation of the amino acid cystine within cells, leading to kidney damage, and other complications. Mutations in the CTNS gene are the most common cause of this condition.
  • Gene: The basic physical and functional unit of heredity. Genes are made up of DNA.
  • Protein: Large, complex molecules that play many critical roles in the body. They do most of the work in cells and are required for the structure, function, and regulation of the body's tissues and organs.
  • Lysosome: A membrane-bound cell organelle that contains digestive enzymes. Lysosomes are involved in processes of cellular secretion, plasma membrane repair, cell signaling, and energy metabolism.
  • Cystine: A non-essential amino acid, which means that it can be made by the body. Cystine is required for proper vitamin B6 utilization and is also helpful in the healing of burns and wounds.

See Also

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