CFTR (NM_000492) - cystic fibrosis transmembrane conductance regulator

Cystic Fibrosis Transmembrane Conductance Regulator

Mutations Visualisation

Protein summary

This is preferred isoform of CFTR protein.
CFTR: cystic fibrosis transmembrane conductance regulator
Description:

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].

Publication Note:
This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications.

Evidence data:
Transcript exon combination :: M28668.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1966682, SAMEA1968540 [ECO:0000348]

Strand
+
Chromosome
7
Protein
1480 residues
All mutations
848
PTM sites
26
CDS
117,120,148 - 117,307,162
Transcription
117,120,016 - 117,308,718
23.85% of sequence is predicted to be disordered

External references

Mappings retrieved from NCBI & Uniprot.
RefSeq
Entrez
gene: 1080
Uniprot
Ensembl