2ii0: Difference between revisions

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~~[[Image:2ii0.png|left|200px]]~~

===Crystal Structure of catalytic domain of Son of sevenless (Rem-Cdc25) in the absence of Ras===

===~~Crystal Structure~~ of ~~catalytic domain~~ of ~~Son~~ of ~~sevenless~~ (~~Rem~~-~~Cdc25~~) ~~in the absence~~ of ~~Ras===~~

==Disease==

[[http://www.uniprot.org/uniprot/SOS1_HUMAN SOS1_HUMAN]] Defects in SOS1 are the cause of gingival fibromatosis 1 (GGF1) [MIM:[http://omim.org/entry/135300 135300]]; also known as GINGF1. Gingival fibromatosis is a rare overgrowth condition characterized by a benign, slowly progressive, nonhemorrhagic, fibrous enlargement of maxillary and mandibular keratinized gingiva. GGF1 is usually transmitted as an autosomal dominant trait, although sporadic cases are common.<ref>PMID:11868160</ref> Defects in SOS1 are the cause of Noonan syndrome type 4 (NS4) [MIM:[http://omim.org/entry/610733 610733]]. NS4 is an autosomal dominant disorder characterized by dysmorphic facial features, short stature, hypertelorism, cardiac anomalies, deafness, motor delay, and a bleeding diathesis. It is a genetically heterogeneous and relatively common syndrome, with an estimated incidence of 1 in 1000-2500 live births. Rarely, NS4 is associated with juvenile myelomonocytic leukemia (JMML). SOS1 mutations engender a high prevalence of pulmonary valve disease; atrial septal defects are less common.<ref>PMID:17143285</ref><ref>PMID:17143282</ref><ref>PMID:19020799</ref><ref>PMID:19438935</ref><ref>PMID:20683980</ref><ref>PMID:20673819</ref><ref>PMID:19953625</ref><ref>PMID:21387466</ref>

~~{{ABSTRACT_PUBMED_17075039}}~~

==Function==

[[http://www.uniprot.org/uniprot/SOS1_HUMAN SOS1_HUMAN]] Promotes the exchange of Ras-bound GDP by GTP.

==About this Structure==

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==Reference==

[[Category: Homo sapiens]]

[[Category: Bar-Sagi, D.]]

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@@ Line 1: / Line 1: @@
-[[Image:2ii0.png|left|200px]]
 {{STRUCTURE_2ii0|  PDB=2ii0  |  SCENE=  }}
+===Crystal Structure of catalytic domain of Son of sevenless (Rem-Cdc25) in the absence of Ras===
+{{ABSTRACT_PUBMED_17075039}}
-===Crystal Structure of catalytic domain of Son of sevenless (Rem-Cdc25) in the absence of Ras===
+==Disease==
+[[http://www.uniprot.org/uniprot/SOS1_HUMAN SOS1_HUMAN]] Defects in SOS1 are the cause of gingival fibromatosis 1 (GGF1) [MIM:[http://omim.org/entry/135300 135300]]; also known as GINGF1. Gingival fibromatosis is a rare overgrowth condition characterized by a benign, slowly progressive, nonhemorrhagic, fibrous enlargement of maxillary and mandibular keratinized gingiva. GGF1 is usually transmitted as an autosomal dominant trait, although sporadic cases are common.<ref>PMID:11868160</ref>  Defects in SOS1 are the cause of Noonan syndrome type 4 (NS4) [MIM:[http://omim.org/entry/610733 610733]]. NS4 is an autosomal dominant disorder characterized by dysmorphic facial features, short stature, hypertelorism, cardiac anomalies, deafness, motor delay, and a bleeding diathesis. It is a genetically heterogeneous and relatively common syndrome, with an estimated incidence of 1 in 1000-2500 live births. Rarely, NS4 is associated with juvenile myelomonocytic leukemia (JMML). SOS1 mutations engender a high prevalence of pulmonary valve disease; atrial septal defects are less common.<ref>PMID:17143285</ref><ref>PMID:17143282</ref><ref>PMID:19020799</ref><ref>PMID:19438935</ref><ref>PMID:20683980</ref><ref>PMID:20673819</ref><ref>PMID:19953625</ref><ref>PMID:21387466</ref>
-{{ABSTRACT_PUBMED_17075039}}
+==Function==
+[[http://www.uniprot.org/uniprot/SOS1_HUMAN SOS1_HUMAN]] Promotes the exchange of Ras-bound GDP by GTP.
 ==About this Structure==
@@ Line 11: / Line 13: @@
 ==Reference==
-<ref group="xtra">PMID:017075039</ref><references group="xtra"/>
+<ref group="xtra">PMID:017075039</ref><references group="xtra"/><references/>
 [[Category: Homo sapiens]]
 [[Category: Bar-Sagi, D.]]