Products

Immunohistochemistry (Formalin/PFA-fixed paraffin-embedded sections)

Entrez GeneID

Protein Accession#

Gene Name

CFTR

Gene Alias

ABC35, ABCC7, CF, CFTR/MRP, MRP7, TNR-CFTR, dJ760C5.1

Gene Description

cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)

Omim ID

Gene Ontology

Gene Summary

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

Other Designations

ATP-binding cassette sub-family C, member 7|cystic fibrosis transmembrane conductance regulator