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cftr
CFTR
CFTR is an ATP-gated chloride and bicarbonate channel; F508del (most common CF mutation) causes protein misfolding and ER retention → absent surface expression → thick mucus; CFTR modulators (elexacaftor/tezacaftor/ivacaftor) restore partial function in F508del homozygotes.
Entry Metadata
| Field | Value |
|---|---|
| ID | cftr |
| Name | CFTR |
| Status | draft |
| Last reviewed | 2026-06-07 |
| Atlas | 01-human |
| Scale | 03-molecular |
Cross-Atlas Connections
Sources
- Riordan JR, Rommens JM, Kerem B, et al. Identification of the cystic fibrosis gene: cloning and characterization of complementary DNA. Science. 1989;245(4922):1066-1073. · PubMed 2475911
- Heijerman HGM, McKone EF, Downey DG, et al. Efficacy and safety of the elexacaftor plus tezacaftor plus ivacaftor combination regimen in people with cystic fibrosis homozygous for the F508del mutation: a double-blind, randomised, phase 3 trial. Lancet. 2019;394(10212):1940-1948. · PubMed 31679946