CFTR

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CFTR

• The Best Protein Ever!

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CFTR stands for cystic fibrosis transmembrane
conductance regulator.
What does this mean?
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CFTR Function

• CFTR is a chloride transporter found in the
  membrane of epithelial cells
• In normal cells, the membrane allows the release
  of Cl from the cell

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CFTR Function

• CFTR is a chloride transporter found in the
  membrane of epithelial cells
• In normal cells, the protein allows the release
  of Cl from the cell.

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• When the Cl leaves the cell, an imbalance is
  created which draws water out of the cell through
  osmosis.
• Water keeps mucus moist and prevents infection.

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Structure of CFTR

• CFTR includes 1480 amino acids.
• CFTR is composed of a single polypeptide chain.
• The character of CFTR arises from the geometry of
  the strand and the order of the amino acids.

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CTFR Disfunction - Cystic Fibrosis

• If CFTR doesnt function, Cl cannot leave the
  cell. Without the imbalance of Cl, water does not
  exit the cell.
• Without water, mucus thickens outside the cell.
  Cilia cannot beat properly and bacteria are
  allowed to collect on the cell. Infection can
  occur.

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Trouble!

• A deletion on chromosome seven causes a disease
  called cystic fibrosis.
• Codon 508 is the culprit.

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• Due to the deletion of Codon 508, the amino acid
  phenylalanine is not present on the chain, which
  changes the proteins structure.

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1 in 2500 Caucasians is born with Cystic
Fibrosis. The key to Cystic Fibrosis is
clogging. The affected areas of the body are the
airways, liver, pancreas, intestine, and
reproductive tract. Often, death occurs before
age 30.