1owa: Difference between revisions

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~~[[Image:1owa.png|left|200px]]~~

===Solution Structural Studies on Human Erythrocyte Alpha Spectrin N Terminal Tetramerization Domain===

==~~=Solution Structural Studies on Human Erythrocyte Alpha Spectrin N Terminal Tetramerization Domain=~~==

==Disease==

[[http://www.uniprot.org/uniprot/SPTA1_HUMAN SPTA1_HUMAN]] Defects in SPTA1 are the cause of elliptocytosis type 2 (EL2) [MIM:[http://omim.org/entry/130600 130600]]. EL2 is a Rhesus-unlinked 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.<ref>PMID:2794061</ref><ref>PMID:8018926</ref><ref>PMID:1679439</ref><ref>PMID:1878597</ref><ref>PMID:2568862</ref><ref>PMID:1541680</ref><ref>PMID:8364215</ref><ref>PMID:2384601</ref><ref>PMID:1638030</ref><ref>PMID:2568861</ref><ref>PMID:8193371</ref><ref>PMID:7772539</ref> Defects in SPTA1 are a cause of hereditary pyropoikilocytosis (HPP) [MIM:[http://omim.org/entry/266140 266140]]. HPP is an autosomal recessive disorder characterized by hemolytic anemia, microspherocytosis, poikilocytosis, and an unusual thermal sensitivity of red cells.<ref>PMID:1878597</ref> Defects in SPTA1 are the cause of spherocytosis type 3 (SPH3) [MIM:[http://omim.org/entry/270970 270970]]; also known as hereditary spherocytosis type 3 (HS3). Spherocytosis is a hematologic disorder leading to chronic hemolytic anemia and characterized by numerous abnormally shaped erythrocytes which are generally spheroidal. SPH3 is characterized by severe hemolytic anemia. Inheritance is autosomal recessive.

~~{{ABSTRACT_PUBMED_12672815}}~~

==Function==

[[http://www.uniprot.org/uniprot/SPTA1_HUMAN SPTA1_HUMAN]] Spectrin is the major constituent of the cytoskeletal network underlying the erythrocyte plasma membrane. It associates with band 4.1 and actin to form the cytoskeletal superstructure of the erythrocyte plasma membrane.

==About this Structure==

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==Reference==

[[Category: Homo sapiens]]

[[Category: Caffrey, M S.]]

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-[[Image:1owa.png|left|200px]]
 {{STRUCTURE_1owa|  PDB=1owa  |  SCENE=  }}
+===Solution Structural Studies on Human Erythrocyte Alpha Spectrin N Terminal Tetramerization Domain===
+{{ABSTRACT_PUBMED_12672815}}
-===Solution Structural Studies on Human Erythrocyte Alpha Spectrin N Terminal Tetramerization Domain===
+==Disease==
+[[http://www.uniprot.org/uniprot/SPTA1_HUMAN SPTA1_HUMAN]] Defects in SPTA1 are the cause of elliptocytosis type 2 (EL2) [MIM:[http://omim.org/entry/130600 130600]]. EL2 is a Rhesus-unlinked 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.<ref>PMID:2794061</ref><ref>PMID:8018926</ref><ref>PMID:1679439</ref><ref>PMID:1878597</ref><ref>PMID:2568862</ref><ref>PMID:1541680</ref><ref>PMID:8364215</ref><ref>PMID:2384601</ref><ref>PMID:1638030</ref><ref>PMID:2568861</ref><ref>PMID:8193371</ref><ref>PMID:7772539</ref>  Defects in SPTA1 are a cause of hereditary pyropoikilocytosis (HPP) [MIM:[http://omim.org/entry/266140 266140]]. HPP is an autosomal recessive disorder characterized by hemolytic anemia, microspherocytosis, poikilocytosis, and an unusual thermal sensitivity of red cells.<ref>PMID:1878597</ref>  Defects in SPTA1 are the cause of spherocytosis type 3 (SPH3) [MIM:[http://omim.org/entry/270970 270970]]; also known as hereditary spherocytosis type 3 (HS3). Spherocytosis is a hematologic disorder leading to chronic hemolytic anemia and characterized by numerous abnormally shaped erythrocytes which are generally spheroidal. SPH3 is characterized by severe hemolytic anemia. Inheritance is autosomal recessive.
-{{ABSTRACT_PUBMED_12672815}}
+==Function==
+[[http://www.uniprot.org/uniprot/SPTA1_HUMAN SPTA1_HUMAN]] Spectrin is the major constituent of the cytoskeletal network underlying the erythrocyte plasma membrane. It associates with band 4.1 and actin to form the cytoskeletal superstructure of the erythrocyte plasma membrane.
 ==About this Structure==
@@ Line 14: / Line 16: @@
 ==Reference==
-<ref group="xtra">PMID:012672815</ref><references group="xtra"/>
+<ref group="xtra">PMID:012672815</ref><references group="xtra"/><references/>
 [[Category: Homo sapiens]]
 [[Category: Caffrey, M S.]]