3qij: Difference between revisions
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{{STRUCTURE_3qij| PDB=3qij | SCENE= }} | {{STRUCTURE_3qij| PDB=3qij | SCENE= }} | ||
===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]] | |||