CFTR: Difference between revisions
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CFTR is the name commonly given to the gene responsible for the production of the [[Cystic fibrosis|Cystic Fibrosis]] Transmembrane Regulator [[Proteins|protein]]. This gene, when mutated, can cause [[Cystic fibrosis|cystic fibrosis]], although it is [[Recessive gene|recessive]], whether the mutations are identical or not. So far, over 1500 mutations of the [[CFTR|CFTR]] gene have been discovered, sometimes in as few as one individual. | CFTR is the name commonly given to the gene responsible for the production of the [[Cystic fibrosis|Cystic Fibrosis]] Transmembrane Regulator [[Proteins|protein]]. This gene, when mutated, can cause [[Cystic fibrosis|cystic fibrosis]], although it is [[Recessive gene|recessive]], whether the mutations are identical or not. So far, over 1500 mutations of the [[CFTR|CFTR]] gene have been discovered, sometimes in as few as one individual. | ||
CFTR is a member of the [[ABC|ABC]] superfamily of proteins and is the only Cl<sup>-</sup> channel in this family. It is very similar to [[P-glycoprotein|P-glycoprotein]]. The CFTR gene was cloned in 1989. | CFTR is a member of the [[ABC|ABC]] superfamily of proteins and is the only Cl<sup>-</sup> channel in this family. It is very similar to [[P-glycoprotein|P-glycoprotein]]. The CFTR gene was cloned in 1989. | ||
CFTR is a passive transporter and it is special in the ABC superfamily proteins. It has got 12 transmembrane domains, with two nucleotide binding domains and a regulatory domain. | |||
Revision as of 10:51, 11 November 2010
CFTR is the name commonly given to the gene responsible for the production of the Cystic Fibrosis Transmembrane Regulator protein. This gene, when mutated, can cause cystic fibrosis, although it is recessive, whether the mutations are identical or not. So far, over 1500 mutations of the CFTR gene have been discovered, sometimes in as few as one individual.
CFTR is a member of the ABC superfamily of proteins and is the only Cl- channel in this family. It is very similar to P-glycoprotein. The CFTR gene was cloned in 1989.
CFTR is a passive transporter and it is special in the ABC superfamily proteins. It has got 12 transmembrane domains, with two nucleotide binding domains and a regulatory domain.