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cftr

/ˌsiː.ef.tiːˈɑːr/

Übersetzung: Abkürzung für das Gen, dessen Mutation die zystische Fibrose (Mukoviszidose) verursacht; kodiert den CFTR-Kanal, der den Chloridtransport durch Zellmembranen reguliert.

1 Eintrag

noun

C2formalcommonmedicalAbkürzung/ˌsiː.ef.tiːˈɑːr/

unzählbar · Eigenname

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.

  • 🇩🇪Abkürzung für das Gen, dessen Mutation die zystische Fibrose (Mukoviszidose) verursacht; kodiert den CFTR-Kanal, der den Chloridtransport durch Zellmembranen reguliert.
  1. Cystic Fibrosis Transmembrane Conductance Regulator C2 formal medical

    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.

    • 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.

    🇩🇪Cystic Fibrosis Transmembrane Conductance Regulator