Sandbox Reserved 1353
From Proteopedia
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==Structure== | ==Structure== | ||
<StructureSection load='1xmi' size='340' side='right' caption='Caption for this structure' scene=''> | <StructureSection load='1xmi' size='340' side='right' caption='Caption for this structure' scene=''> | ||
| - | Composed of 1480 amino acids in 5 domains, each connected by a nucleotide binding domain. | + | Composed of 1480 amino acids in 5 domains, each connected by a nucleotide binding domain. There are 6 alpha helices and 2 trans-membrane domains. |
== Function == | == Function == | ||
| - | The protein regulates transport of bicarbonate and chloride ions. | + | The protein regulates transport of bicarbonate and chloride ions. Important for fluid and osmotic homeostasis. The Chloride channel only opens when the R domain is phosphorylated. It also protects against pathogens by regulation the pH of airway surfaces. |
| - | == Disease | + | == Disease |
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 == | ||
Revision as of 21:05, 21 February 2018
| This Sandbox is Reserved from January through July 31, 2018 for use in the course HLSC322: Principles of Genetics and Genomics taught by Genevieve Houston-Ludlam at the University of Maryland, College Park, USA. This reservation includes Sandbox Reserved 1311 through Sandbox Reserved 1430. |
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Structure
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References
protein
