3qij: Difference between revisions

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[[Image:3qij.jpg|left|200px]]
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{{STRUCTURE_3qij|  PDB=3qij  |  SCENE=  }}  
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===Primitive-monoclinic crystal structure of the FERM domain of protein 4.1R===


===Primitive-monoclinic crystal structure of the FERM domain of protein 4.1R===
==Disease==
[[http://www.uniprot.org/uniprot/41_HUMAN 41_HUMAN]] Defects in EPB41 are the cause of elliptocytosis type 1 (EL1) [MIM:[http://omim.org/entry/611804 611804]]. EL1 is a Rhesus-linked form of hereditary elliptocytosis, a genetically heterogeneous, autosomal dominant, hematologic disorder. It is characterized by variable hemolytic anemia and elliptical or oval red cell shape.  Defects in EPB41 are a cause of hereditary pyropoikilocytosis (HPP) [MIM:[http://omim.org/entry/266140 266140]]. HPP is an autosomal recessive hematologic disorder characterized by hemolytic anemia, microspherocytosis, poikilocytosis, and an unusual thermal sensitivity of red cells.  


==Function==
[[http://www.uniprot.org/uniprot/41_HUMAN 41_HUMAN]] Protein 4.1 is a major structural element of the erythrocyte membrane skeleton. It plays a key role in regulating membrane physical properties of mechanical stability and deformability by stabilizing spectrin-actin interaction. Recruits DLG1 to membranes.


==About this Structure==
==About this Structure==
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[[Category: Weigelt, J.]]
[[Category: Weigelt, J.]]
[[Category: Zhong, N.]]
[[Category: Zhong, N.]]
[[Category: Cytoskeleton]]
[[Category: Sgc]]
[[Category: Structural genomic]]
[[Category: Structural genomics consortium]]
[[Category: Structural protein]]