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Gene Protein Transcript Promoter Expression GO/PPI PubMed Cross reference

Gene information for CFTR (Homo sapiens)
(Information is obtained from NCBI Gene database)
Entrez gene ID1080
Official gene symbolCFTR
Full namecystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)
Aliases,ABC35,ABCC7,CF,CFTR/MRP,MRP7,TNR-CFTR,dJ760C5.1,
Gene summaryThis 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]
LocationChromosome: 7   Locus: 7q31.2
Gene position117120017 - 117308719  Map Viewer
Gene orientationplus
Gene size188703 bp
Gene sequence
OMIM ID602421