Protein Name cystic fibrosis transmembrane conductance regulator
Organism Mus musculus
Gene ID 12638
Gene Symbol

Cftr

UniProt P26361 (CFTR_MOUSE)
Relationships Total Number of functionally related compound(s) : 353
Total Number of Articles : 625
Description

cystic fibrosis transmembrane conductance regulator

Gene Summary

The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. 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 which is involved in multi-drug resistance. This gene encodes the cystic fibrosis transmembrane regulator and a chloride channel that controls the regulation of other transport pathways. Mutations in this gene have been associated with autosomal recessive disorders such as cystic fibrosis and congenital bilateral aplasia of the vas deferens. Alternative splicing of exons 4, 5, and 11 have been observed, but full-length transcripts have not yet been fully described. [provided by RefSeq, Jul 2008]

synonyms
  • cystic fibrosis transmembrane conductance regulator
  • ATP-binding cassette sub-family C member 7
  • ATP-binding cassette transporter sub-family C member 7
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Properties