cftr

incontável · nome próprio

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.

• 🇵🇹Sigla do gene cuja mutação causa a fibrose cística; codifica a proteína reguladora da condutância transmembrana da fibrose cística, que transporta íons cloreto através das membranas celulares.

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.

   🇵🇹Regulador da condutância transmembranar da fibrose cística