cftr

• Аббревиатура, обозначающая ген, мутация которого вызывает муковисцидоз; отвечает за кодирование белка, участвующего в транспорте ионов хлора через клеточные мембраны.

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.

uncountable · proper noun

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.

   Регулятор трансмембранной проводимости при муковисцидозе

   • 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.