2bbt: Difference between revisions

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-[[Image:2bbt.png|left|200px]]
 {{STRUCTURE_2bbt|  PDB=2bbt  |  SCENE=  }}
+===Human deltaF508 NBD1 with two solublizing mutations.===
+{{ABSTRACT_PUBMED_19944699}}
-===Human deltaF508 NBD1 with two solublizing mutations.===
+==Disease==
+[[http://www.uniprot.org/uniprot/CFTR_HUMAN CFTR_HUMAN]] Defects in CFTR are the cause of cystic fibrosis (CF) [MIM:[http://omim.org/entry/219700 219700]]; also known as mucoviscidosis. CF is the most common genetic disease in the Caucasian population, with a prevalence of about 1 in 2'000 live births. Inheritance is autosomal recessive. CF is a common generalized disorder of exocrine gland function which impairs clearance of secretions in a variety of organs. It is characterized by the triad of chronic bronchopulmonary disease (with recurrent respiratory infections), pancreatic insufficiency (which leads to malabsorption and growth retardation) and elevated sweat electrolytes.<ref>PMID:1695717</ref><ref>PMID:2236053</ref><ref>PMID:1710600</ref><ref>PMID:1284466</ref><ref>PMID:1284468</ref><ref>PMID:1284530</ref><ref>PMID:1284529</ref><ref>PMID:7680525</ref><ref>PMID:7683628</ref><ref>PMID:7683954</ref><ref>PMID:7505694</ref><ref>PMID:7504969</ref><ref>PMID:7522211</ref><ref>PMID:7513296</ref><ref>PMID:7525450</ref><ref>PMID:7520022</ref><ref>PMID:7524913</ref><ref>PMID:7524909</ref><ref>PMID:7517264</ref><ref>PMID:8081395</ref><ref>PMID:7544319</ref><ref>PMID:8522333</ref><ref>PMID:7537150</ref><ref>PMID:7541273</ref><ref>PMID:7581407</ref><ref>PMID:7543567</ref><ref>PMID:7541510</ref><ref>PMID:8800923</ref><ref>PMID:8829633</ref><ref>PMID:8723693</ref><ref>PMID:8723695</ref><ref>PMID:8956039</ref><ref>PMID:9101301</ref><ref>PMID:9222768</ref><ref>PMID:9375855</ref><ref>PMID:9401006</ref><ref>PMID:9443874</ref><ref>PMID:9521595</ref><ref>PMID:9921909</ref><ref>PMID:9736778</ref><ref>PMID:9482579</ref><ref>PMID:9554753</ref><ref>PMID:9452048</ref><ref>PMID:9452054</ref><ref>PMID:9452073</ref><ref>PMID:10094564</ref>  Defects in CFTR are the cause of congenital bilateral absence of the vas deferens (CBAVD) [MIM:[http://omim.org/entry/277180 277180]]. CBAVD is an important cause of sterility in men and could represent an incomplete form of cystic fibrosis, as the majority of men suffering from cystic fibrosis lack the vas deferens.<ref>PMID:7529962</ref><ref>PMID:7539342</ref><ref>PMID:9067761</ref><ref>PMID:10651488</ref>[:]
-{{ABSTRACT_PUBMED_19944699}}
+==Function==
+[[http://www.uniprot.org/uniprot/CFTR_HUMAN CFTR_HUMAN]] Involved in the transport of chloride ions. May regulate bicarbonate secretion and salvage in epithelial cells by regulating the SLC4A7 transporter. Can inhibit the chloride channel activity of ANO1.<ref>PMID:22178883</ref>
 ==About this Structure==
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 ==Reference==
-<ref group="xtra">PMID:019944699</ref><references group="xtra"/>
+<ref group="xtra">PMID:019944699</ref><references group="xtra"/><references/>
 [[Category: Homo sapiens]]
 [[Category: Conners, K.]]