CFTR Antibody – Rabbit Polyclonal

This gene encodes a member of the ATP-binding cassette (ABC) transporter superfamily. The encoded protein functions as a chloride channel, making it unique among members of this protein family, and controls ion and water secretion and absorption in epithelial tissues. Channel activation is mediated by cycles of regulatory domain phosphorylation, ATP-binding by the nucleotide-binding domains, and ATP hydrolysis. Mutations in this gene cause cystic fibrosis, the most common lethal genetic disorder in populations of Northern European descent. The most frequently occurring mutation in cystic fibrosis, DeltaF508, results in impaired folding and trafficking of the encoded protein. Multiple pseudogenes have been identified in the human genome. [provided by RefSeq, Aug 2017]

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

Chromosomal Location of Human Ortholog: 7q31.2

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

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

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