Ivacaftor
Identifier : DBSNPE000177
Drug : DB08820 (Ivacaftor)
Interacting Gene/Enzyme : Cystic fibrosis divansmembrane conductance regulator
Gene Name : CFTR
UniProt ID : P13569
Defining Change(s) :
- A allele (G > A) (rs75527207 )
Allele Name : Not Available
Genotype(s) : (A;A) / (A;G)
Type(s) : Effect Directly Studied
Groups : Not Available
Description : Cystic Fibrosis patients with the A allele will respond to ivacaftor
References :
- Hebesdiveit H, Sauer-Heilborn A, Fischer R, Kading M, Mainz JG: Effects of ivacaftor on severely ill patients with cystic fibrosis carrying a G551D mutation. J Cyst Fibros. 2013 Dec;12(6):599-603. doi: 10.1016/j.jcf.2013.05.006. Epub 2013 Jun 10. [PubMed:23757359 ]
- Van Goor F, Yu H, Burton B, Hoffman BJ: Effect of ivacaftor on CFTR forms with missense mutations associated with defects in protein processing or function. J Cyst Fibros. 2014 Jan;13(1):29-36. doi: 10.1016/j.jcf.2013.06.008. Epub 2013 Jul 23. [PubMed:23891399 ]