cftr

• Abreviatura que designa un gen cuya mutación causa fibrosis quística; codifica una proteína implicada en el transporte de iones de cloro a través de las membranas celulares.

An abbreviation referring to the gene that is mutated in cystic fibrosis, responsible for encoding a protein involved in chloride ion transport across cell membranes.

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1. Cystic Fibrosis Transmembrane Conductance RegulatorC2formalmedical

   A gene that provides instructions for making a protein that functions as a channel across the cell membrane, transporting chloride ions. Mutations in this gene cause cystic fibrosis.

   Regulador de conductancia transmembrana de la fibrosis quística

   • Mutations in the CFTR gene are the primary cause of cystic fibrosis.
   • The CFTR protein helps regulate the movement of salt and water in cells.
   • New therapies aim to correct the function of the defective CFTR protein.