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Sandbox Reserved 1353

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Revision as of 21:16, 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

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. It has 27 exons, 26 introns, and it is a glycoprotein.

1 Function
2 Disease
3 Relevance
4 Structural highlights
5 References

Function

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

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

The protein is crucial for ion circulation in epithelial cells, with lack of function leading to serious disease.

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. Mutation at any of the below sites confers resistance to salmonella to the cell. These mutations also prevent diarrhea from Cholera in mice.

References

Araújo FG, Novaes FC, Santos NP, Martins VC, Souza SM, Santos SE, Ribeiro-dos-Santos AK (January 2005). "Prevalence of deltaF508, G551D, G542X, and R553X mutations among cystic fibrosis patients in the North of Brazil". Braz. J. Med. Biol. Res. 38 (1): 11–5. doi:10.1590/S0100-879X2005000100003. PMID 15665983.
Kavic SM, Frehm EJ, Segal AS (1999). "Case studies in cholera: lessons in medical history and science". Yale J Biol Med. 72 (6): 393–408. PMC 2579035 Freely accessible. PMID 11138935.

Cystic Fibrosis Mutation Database. "Genomic DNA sequence".

Retrieved from "http://52.214.119.220/wiki/index.php/Sandbox_Reserved_1353"

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 <scene name='77/777673/G551d_mutation_site/1'>G551D Mutation Site</scene>
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 == References ==
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  Kavic SM, Frehm EJ, Segal AS (1999). "Case studies in cholera: lessons in medical history and science". Yale J Biol Med. 72 (6): 393–408. PMC 2579035 Freely accessible. PMID 11138935.
 Cystic Fibrosis Mutation Database. "Genomic DNA sequence".
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- protein

Sandbox Reserved 1353

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Revision as of 21:16, 21 February 2018

Structure

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