Cystic Fibrosis Transmembrane Conductance Regulator
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چکیده
Description The cystic fibrosis transmembrane regulator (CFTR) gene codes for the CFTR protein; a chloride channel protein that helps in the transportation of chloride ions and water molecules across the cell membranes of lungs, liver, pancreas, and skin. CFTR is a member of the ATP-binding cassette family of membrane transport proteins, but appears to be unique within this family by functioning as an ion channel rather than an active transporter protein. CFTR binds to ATP in order to open the channel for chloride ion transport across the membrane. This transport of chloride ions helps in controlling the movement of water in tissues and thereby, maintains the fluidity of mucus and other secretions. The CFTR protein contains twelve tranmembrane alpha-helices that are presumed to form the pore region by which chloride ions cross the membrane. Functional evidence implicates tranmembranes 1 and 6 as playing key roles in forming the pore and interacting with chloride ions to determine the functional permeation properties.
منابع مشابه
Analysis of c.3369+213TA[7-56] and D7S523 microsatellites linked to Cystic Fibrosis Transmembrane Regulator.
Cystic fibrosis (CF) is a life-limiting autosomal recessive disorder affecting principally respiratory and digestive system . It is caused by cystic fibrosis transmembrane conductance regulator (CFTR) gene mutation. The aim of this study was to determine the extent of repeat numbers and the degree of heterozygosity for c.3499+200TA(7_56) and D7S523 located in intron 17b and 1 cM proximal to t...
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