Sandbox Reserved 1321

From Proteopedia

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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2r7e Overview

Although 2r7e is plays a small role in one of many blood clotting factors, changes to its structure can have adverse effects, such as the onset of Hemophilia. More specifically, 2r7e is a polypeptide component of Coagulation Factor VIII. Coagulation Factor VIII plays an incredibly important role in thrombosis, and damage to its structure has been cited as a common cause of Hemophilia A. Thus, changes to the 2r7e protein, such as the manipulation of ligand binding sites, could disrupt the function of the Coagulation Factor VIII protein complex, and, consequently, result in poor blood clotting performance.

1 Structural highlights
2 Ligands
3 Function
4 Disease
5 Relevance
6 References

Structural highlights

2r7e is a 2 chain structure. It has 5 associated ligands and is coded for by 2 different genes, F8 and F8C. 2r7e has both and secondary structure. Alterations in this structure can lead to improper location of ligands, leading to failed protein function. Also, most proteins including 2r7e, incorporate other macromolecules in order to create a stronger structure. In this case, 2r7e relies on to hold the structure together.

Ligands

2r7e has 5 ligands (, , BMA, MAN, NAG), which are binding sites for other proteins in Coagulation Factor VIII.

Function

2r7e is a protein that makes up part of Coagulation Factor VIII, which is a protein complex involved in blood clotting in humans. Coagulation Factor VIII works with calcium and phosholipids to convert Factor X to its activated form Xa.

Disease

Mutations in 2r7e can alter the structure of Coagulation Factor VIII, leading to Hemophilia A. Hemophilia is one type of disease that impacts blood clotting. With Hemophilia, abnormal and exaggerated bleeding occurs due to the bodies inability to properly clot blood. This is an inherited disease that is transferred on the X chromosome. The 13 different cofactors begin a cascade that mesh up the blood clot and stop the bleeding. As previously mentioned, protein 2r7e is a part of factor 8 which is one of the factors that is part of the cascade. Factor 8 is always connected with Hemophilia A while factor 9 is always connected to Hemophilia B. Hemophilia A is the most common type of Hemophilia since it is present in 80% of Hemophilia patients.

Relevance

Understanding the function and binding of 2r7e has medical applications in that it can be used to garner a greater understanding of coagulation factors contribute to hemophilia.