Description
Product Characteristics: CFTR (Cystic fibrosis transmembrane conductance regulator) is involved in the transport of chloride ions and binds SLC9A3R1. CFTR is an integral membrane protein. Defects in CFTR are the cause of cystic fibrosis (CF), also known as mucoviscidosis. It belongs to the ABC transporter family and MRP subfamily.
Target Information: 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]