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(Difference between revisions)
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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. | |
== 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. | |
<scene name="/12/3456/Sample/1">color</scene> <scene name="/12/3456/Sample/2"> | <scene name="/12/3456/Sample/1">color</scene> <scene name="/12/3456/Sample/2"> | ||
</StructureSection> | </StructureSection> | ||
| + | <scene name='77/777673/Nbd1_sites/1'>nbd1 sites mutated in dysfunctional protein.</scene> | ||
== References == | == References == | ||
<references/> | <references/> | ||
| + | protein | ||
Revision as of 20:39, 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
