Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) ELISA Kit for Human

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]

CFTR: a member of the MRP subfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. Functions as a chloride channel and controls the regulation of other transport pathways. Mutations have been observed in patients with the autosomal recessive disorders cystic fibrosis (CF) and congenital bilateral aplasia of the vas deferens (CBAVD). Alternative splice

Protein type: Hydrolase; Membrane protein, integral; Transporter; Transporter, ABC family; EC 3.6.3.49; Channel, chloride; Membrane protein, multi-pass

Chromosomal Location of Human Ortholog: 7q31.2

Cellular Component: apical plasma membrane; basolateral plasma membrane; cell surface; cytoplasm; cytosol; early endosome; early endosome membrane; lysosomal membrane; plasma membrane; protein complex; recycling endosome

Molecular Function: ATP binding; ATP-binding and phosphorylation-dependent chloride channel activity; bicarbonate transmembrane transporter activity; channel-conductance-controlling ATPase activity; chloride channel activity; chloride channel inhibitor activity; chloride transmembrane transporter activity; enzyme binding; PDZ domain binding; protein binding

Biological Process: bicarbonate transport; cholesterol biosynthetic process; cholesterol transport; intracellular pH elevation; membrane hyperpolarization; positive regulation of exocytosis; respiratory gaseous exchange; small GTPase mediated signal transduction; sperm capacitation; transmembrane transport; transport; vesicle docking during exocytosis

Disease: Bronchiectasis With Or Without Elevated Sweat Chloride 1; Cystic Fibrosis; Pancreatitis, Hereditary; Vas Deferens, Congenital Bilateral Aplasia Of