Aliases for CFTR Gene
- Cystic Fibrosis Transmembrane Conductance Regulator (ATP-Binding Cassette Sub-Family C, Member 7) 2 3
- ABCC7 3 4 6
- Channel Conductance-Controlling ATPase 3 4
- CAMP-Dependent Chloride Channel 3 4
- EC 22.214.171.124 4 64
- MRP7 3 6
- CF 3 6
- Cystic Fibrosis Transmembrane Conductance Regulator, ATP-Binding Cassette (Sub-Family C, Member 7) 2
- Cystic Fibrosis Transmembrane Conductance Regulator 3
External Ids for CFTR Gene
Previous Symbols for CFTR Gene
This gene encodes a member of the ATP-binding cassette (ABC) transporter superfamily. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the MRP subfamily that is involved in multi-drug resistance. The encoded protein functions as a chloride channel and controls the regulation of other transport pathways. Mutations in this gene are associated with the autosomal recessive disorders cystic fibrosis and congenital bilateral aplasia of the vas deferens. Alternatively spliced transcript variants have been described, many of which result from mutations in this gene. [provided by RefSeq, Jul 2008]
GeneCards Summary for CFTR Gene
CFTR (Cystic Fibrosis Transmembrane Conductance Regulator (ATP-Binding Cassette Sub-Family C, Member 7)) is a Protein Coding gene. Diseases associated with CFTR include congenital bilateral absence of vas deferens and congenital absence of the vas deferens. Among its related pathways are NO-dependent CFTR activation (normal and CF) and Immune response CCR3 signaling in eosinophils. GO annotations related to this gene include enzyme binding and chloride channel activity.
UniProtKB/Swiss-Prot for CFTR Gene
Involved in the transport of chloride ions. May regulate bicarbonate secretion and salvage in epithelial cells by regulating the SLC4A7 transporter. Can inhibit the chloride channel activity of ANO1. Plays a role in the chloride and bicarbonate homeostasis during sperm epididymal maturation and capacitation.
CFTR (cystic fibrosis transmembrane conductance regulator) is one of the five main subtypes of chloride channels. CFTR is a cAMP-regulated epithelial cell channel involved in fluid transport. It inhibits ENaC, CaCC and VRAC channels and activates ORCC and ROMK2 channels. The homozygous delta508 mutation causes impaired CFTR trafficking and leads to cystic fibrosis.