基因名:
CFTR
产品别名:
ABC35; ABCC7; CF; CFTR/MRP; MRP7; TNR-CFTR; dJ760C5.1; CFTR; CF transmembrane conductance regulator; CF transmembrane conductance regulator; cystic fibrosis transmembrane conductance regulator; cAMP-dependent chloride channel; channel conductance-controlling ATPase; cystic fibrosis transmembrane conductance regulating; cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7); 囊性纤维化跨膜传导调节因子(CFTR); 囊性纤维化跨膜转运调节因子;
背景信息:
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]