CFTR (NM_000492) - cystic fibrosis transmembrane conductance regulator
Cystic Fibrosis Transmembrane Conductance Regulator
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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].
This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications.
Transcript exon combination :: M28668.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1966682, SAMEA1968540 [ECO:0000348]
- 1480 residues
- All mutations
- PTM sites
- 117,120,148 - 117,307,162
- 117,120,016 - 117,308,718