1d5v
From Proteopedia
(Difference between revisions)
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<StructureSection load='1d5v' size='340' side='right'caption='[[1d5v]], [[NMR_Ensembles_of_Models | 25 NMR models]]' scene=''> | <StructureSection load='1d5v' size='340' side='right'caption='[[1d5v]], [[NMR_Ensembles_of_Models | 25 NMR models]]' scene=''> | ||
== Structural highlights == | == Structural highlights == | ||
- | <table><tr><td colspan='2'>[[1d5v]] is a 1 chain structure with sequence from [ | + | <table><tr><td colspan='2'>[[1d5v]] is a 1 chain structure with sequence from [https://en.wikipedia.org/wiki/Human Human]. Full experimental information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=1D5V OCA]. For a <b>guided tour on the structure components</b> use [https://proteopedia.org/fgij/fg.htm?mol=1D5V FirstGlance]. <br> |
- | </td></tr><tr id='resources'><td class="sblockLbl"><b>Resources:</b></td><td class="sblockDat"><span class='plainlinks'>[ | + | </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=1d5v FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=1d5v OCA], [https://pdbe.org/1d5v PDBe], [https://www.rcsb.org/pdb/explore.do?structureId=1d5v RCSB], [https://www.ebi.ac.uk/pdbsum/1d5v PDBsum], [https://prosat.h-its.org/prosat/prosatexe?pdbcode=1d5v ProSAT]</span></td></tr> |
</table> | </table> | ||
== Disease == | == Disease == | ||
- | [[ | + | [[https://www.uniprot.org/uniprot/FOXC2_HUMAN FOXC2_HUMAN]] Defects in FOXC2 are the cause of lymphedema hereditary type 2 (LMPH2) [MIM:[https://omim.org/entry/153200 153200]]; also known as Meige lymphedema. Hereditary lymphedema is a chronic disabling condition which results in swelling of the extremities due to altered lymphatic flow. Patients with lymphedema suffer from recurrent local infections, and physical impairment.<ref>PMID:11078474</ref> Defects in FOXC2 are a cause of lymphedema-yellow nails (LYYN) [MIM:[https://omim.org/entry/153300 153300]]. LYYN is characterized by yellow, dystrophic, thick and slowly growing nails, associated with lymphedema and respiratory involvement. Lymphedema occurs more often in the lower limbs. It can appear at birth or later in life. Onset generally follows the onset of ungual abnormalities. Defects in FOXC2 are a cause of lymphedema-distichiasis (LYD) [MIM:[https://omim.org/entry/153400 153400]]. LYD is characterized by primary limb lymphedema usually starting at puberty (but in some cases later or at birth) and associated with distichiasis (double rows of eyelashes, with extra eyelashes growing from the Meibomian gland orifices).<ref>PMID:11499682</ref> |
== Function == | == Function == | ||
- | [[ | + | [[https://www.uniprot.org/uniprot/FOXC2_HUMAN FOXC2_HUMAN]] Transcriptional activator. Might be involved in the formation of special mesenchymal tissues.<ref>PMID:9169153</ref> |
== Evolutionary Conservation == | == Evolutionary Conservation == | ||
[[Image:Consurf_key_small.gif|200px|right]] | [[Image:Consurf_key_small.gif|200px|right]] |
Revision as of 10:43, 14 July 2021
SOLUTION STRUCTURE OF THE FORKHEAD DOMAIN OF THE ADIPOCYTE-TRANSCRIPTION FACTOR FREAC-11 (S12)
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