Aliases for CFTR Gene
- Cystic Fibrosis Transmembrane Conductance Regulator 2 3 5
- Channel Conductance-Controlling ATPase 3 4
- CAMP-Dependent Chloride Channel 3 4
- EC 22.214.171.124 4 63
- ABCC7 3 4
- Cystic Fibrosis Transmembrane Conductance Regulator, ATP-Binding Cassette (Sub-Family C, Member 7) 2
- Cystic Fibrosis Transmembrane Conductance Regulator (ATP-Binding Cassette Sub-Family C, Member 7) 3
- ATP-Binding Cassette Sub-Family C Member 7 4
- ATP-Binding Cassette Sub-Family C 2
External Ids for CFTR Gene
Previous HGNC Symbols for CFTR Gene
Previous GeneCards Identifiers 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) is a Protein Coding gene. Diseases associated with CFTR include Congenital Bilateral Absence Of Vas Deferens and Cystic Fibrosis. Among its related pathways are Normal wtCFTR traffic / ER-to-Golgi and Regulation of degradation of deltaF508 CFTR in CF. GO annotations related to this gene include enzyme binding and PDZ domain binding. An important paralog of this gene is ABCC12.
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.
Chloride channels are a family of anion-selective channels involved in the regulation of the excitability of neurons, skeletal, cardiac and smooth muscle, cell volume regulation, transepithelial salt transport and the acidification of intra- and extracellular compartments.