8d7i
From Proteopedia
(Difference between revisions)
| Line 7: | Line 7: | ||
<tr id='resources'><td class="sblockLbl"><b>Resources:</b></td><td class="sblockDat"><span class='plainlinks'>[https://proteopedia.org/fgij/fg.htm?mol=8d7i FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=8d7i OCA], [https://pdbe.org/8d7i PDBe], [https://www.rcsb.org/pdb/explore.do?structureId=8d7i RCSB], [https://www.ebi.ac.uk/pdbsum/8d7i PDBsum], [https://prosat.h-its.org/prosat/prosatexe?pdbcode=8d7i ProSAT]</span></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=8d7i FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=8d7i OCA], [https://pdbe.org/8d7i PDBe], [https://www.rcsb.org/pdb/explore.do?structureId=8d7i RCSB], [https://www.ebi.ac.uk/pdbsum/8d7i PDBsum], [https://prosat.h-its.org/prosat/prosatexe?pdbcode=8d7i ProSAT]</span></td></tr> | ||
</table> | </table> | ||
| - | == Disease == | ||
| - | [https://www.uniprot.org/uniprot/ELNE_HUMAN ELNE_HUMAN] Defects in ELANE are a cause of cyclic haematopoiesis (CH) [MIM:[https://omim.org/entry/162800 162800]; also known as cyclic neutropenia. CH is an autosomal dominant disease in which blood-cell production from the bone marrow oscillates with 21-day periodicity. Circulating neutrophils vary between almost normal numbers and zero. During intervals of neutropenia, affected individuals are at risk for opportunistic infection. Monocytes, platelets, lymphocytes and reticulocytes also cycle with the same frequency.<ref>PMID:14673143</ref> <ref>PMID:10581030</ref> Defects in ELANE are the cause of neutropenia severe congenital autosomal dominant type 1 (SCN1) [MIM:[https://omim.org/entry/202700 202700]. SCN1 is a disorder of hematopoiesis characterized by a maturation arrest of granulopoiesis at the level of promyelocytes with peripheral blood absolute neutrophil counts below 0.5 x 10(9)/l and early onset of severe bacterial infections.<ref>PMID:20220065</ref> | ||
| - | == Function == | ||
| - | [https://www.uniprot.org/uniprot/ELNE_HUMAN ELNE_HUMAN] Modifies the functions of natural killer cells, monocytes and granulocytes. Inhibits C5a-dependent neutrophil enzyme release and chemotaxis.<ref>PMID:15140022</ref> | ||
| - | == References == | ||
| - | <references/> | ||
__TOC__ | __TOC__ | ||
</StructureSection> | </StructureSection> | ||
Current revision
Bifunctional Inhibition of Neutrophil Elastase and Cathepsin G by Eap1 from S. aureus
| |||||||||||
