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When the protein isn't functional it causes Cystic Fibrosis (CF). The gene is autosomal recessive. CF prevents successful excretion of wastes in many organs. Less functional proteins may result in sterility in males. | When the protein isn't functional it causes Cystic Fibrosis (CF). The gene is autosomal recessive. CF prevents successful excretion of wastes in many organs. Less functional proteins may result in sterility in males. | ||
== Relevance == | == Relevance == | ||
| - | The protein is crucial for ion circulation in epithelial cells, with lack of function leading to serious disease. | + | The protein is crucial for chlorine and thiocyanate ion circulation in epithelial cells, with lack of function leading to serious disease. |
== Structural highlights == | == Structural highlights == | ||
The nbd1 domain is altered in CF patients, due to deletion of residue Phe-508 which results in a severe loss of function. | The nbd1 domain is altered in CF patients, due to deletion of residue Phe-508 which results in a severe loss of function. | ||
Revision as of 20:11, 28 February 2018
Template:Cystic Fibrosis Transmembrane Conductance Regulator (CFTR)
Cystic Fibrosis Transmembrane Conductance Regulator (CFTR)
Structure
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