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

Chromosomal Location of Human Ortholog: 7q31.2

Cellular Component: recycling endosome; cytoplasmic vesicle membrane; microvillus; protein complex; cell surface; basolateral plasma membrane; early endosome membrane; apical plasma membrane; cytoplasm; early endosome; plasma membrane

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

Biological Process: intracellular pH elevation; response to drug; response to peptide hormone stimulus; cholesterol transport; iodide transport; water transport; transepithelial chloride transport; membrane hyperpolarization; respiratory gaseous exchange; positive regulation of vasodilation; vasodilation; cholesterol biosynthetic process; cellular response to hormone stimulus; bicarbonate transport; response to estrogen stimulus; transport; response to cytokine stimulus; transmembrane transport; sperm capacitation; lung development

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