4a04
From Proteopedia
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| - | [[Image:4a04.png|left|200px]] | ||
| - | + | ==Structure of the DNA-bound T-box domain of human TBX1, a transcription factor associated with the DiGeorge syndrome== | |
| - | + | <StructureSection load='4a04' size='340' side='right'caption='[[4a04]], [[Resolution|resolution]] 2.58Å' scene=''> | |
| - | + | == Structural highlights == | |
| - | + | <table><tr><td colspan='2'>[[4a04]] is a 4 chain structure with sequence from [https://en.wikipedia.org/wiki/Homo_sapiens Homo sapiens]. Full crystallographic information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=4A04 OCA]. For a <b>guided tour on the structure components</b> use [https://proteopedia.org/fgij/fg.htm?mol=4A04 FirstGlance]. <br> | |
| - | + | </td></tr><tr id='method'><td class="sblockLbl"><b>[[Empirical_models|Method:]]</b></td><td class="sblockDat" id="methodDat">X-ray diffraction, [[Resolution|Resolution]] 2.58Å</td></tr> | |
| - | -- | + | <tr id='resources'><td class="sblockLbl"><b>Resources:</b></td><td class="sblockDat"><span class='plainlinks'>[https://proteopedia.org/fgij/fg.htm?mol=4a04 FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=4a04 OCA], [https://pdbe.org/4a04 PDBe], [https://www.rcsb.org/pdb/explore.do?structureId=4a04 RCSB], [https://www.ebi.ac.uk/pdbsum/4a04 PDBsum], [https://prosat.h-its.org/prosat/prosatexe?pdbcode=4a04 ProSAT]</span></td></tr> |
| - | + | </table> | |
| - | + | == Disease == | |
| - | === | + | [https://www.uniprot.org/uniprot/TBX1_HUMAN TBX1_HUMAN] 22q11.2 microduplication syndrome;22q11.2 deletion syndrome. Haploinsufficiency of the TBX1 gene is responsible for most of the physical malformations present in DiGeorge syndrome (DGS) and velocardiofacial syndrome (VCFS). DGS is characterized by the association of several malformations: hypoplastic thymus and parathyroid glands, congenital conotruncal cardiopathy, and a subtle but characteristic facial dysmorphology. VCFS is marked by the association of congenital conotruncal heart defects, cleft palate or velar insufficiency, facial dysmorpholgy and learning difficulties. It is now accepted that these two syndromes represent two forms of clinical expression of the same entity manifesting at different stages of life. The disease is caused by mutations affecting the gene represented in this entry. The disease is caused by mutations affecting the gene represented in this entry. The disease is caused by mutations affecting the gene represented in this entry. |
| - | + | == Function == | |
| - | + | [https://www.uniprot.org/uniprot/TBX1_HUMAN TBX1_HUMAN] Probable transcriptional regulator involved in developmental processes. Is required for normal development of the pharyngeal arch arteries (By similarity). | |
| - | == | + | |
| - | [[4a04]] is a 4 chain structure with sequence from [ | + | |
==See Also== | ==See Also== | ||
*[[T-box proteins|T-box proteins]] | *[[T-box proteins|T-box proteins]] | ||
| - | + | __TOC__ | |
| - | + | </StructureSection> | |
| - | + | ||
[[Category: Homo sapiens]] | [[Category: Homo sapiens]] | ||
| - | [[Category: | + | [[Category: Large Structures]] |
| - | [[Category: | + | [[Category: Bhattacharya S]] |
| - | + | [[Category: De Mesmaeker J]] | |
| - | + | [[Category: El Omari K]] | |
| - | [[Category: Mesmaeker | + | [[Category: Ginn H]] |
| - | [[Category: Omari | + | [[Category: Karia D]] |
| - | [[Category: | + | [[Category: Mancini EJ]] |
| - | [[Category: | + | |
| - | [[Category: | + | |
Current revision
Structure of the DNA-bound T-box domain of human TBX1, a transcription factor associated with the DiGeorge syndrome
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