1ihk: Difference between revisions
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{{STRUCTURE_1ihk| PDB=1ihk | SCENE= }} | {{STRUCTURE_1ihk| PDB=1ihk | SCENE= }} | ||
===CRYSTAL STRUCTURE OF FIBROBLAST GROWTH FACTOR 9 (FGF9)=== | |||
{{ABSTRACT_PUBMED_11060292}} | |||
=== | ==Disease== | ||
[[http://www.uniprot.org/uniprot/FGF9_HUMAN FGF9_HUMAN]] Defects in FGF9 are the cause of multiple synostoses syndrome type 3 (SYNS3) [MIM:[http://omim.org/entry/612961 612961]]. Multiple synostoses syndrome is an autosomal dominant condition characterized by progressive joint fusions of the fingers, wrists, ankles and cervical spine, characteristic facies and progressive conductive deafness.<ref>PMID:19589401</ref> | |||
==Function== | |||
[[http://www.uniprot.org/uniprot/FGF9_HUMAN FGF9_HUMAN]] Plays an important role in the regulation of embryonic development, cell proliferation, cell differentiation and cell migration. May have a role in glial cell growth and differentiation during development, gliosis during repair and regeneration of brain tissue after damage, differentiation and survival of neuronal cells, and growth stimulation of glial tumors.<ref>PMID:8663044</ref><ref>PMID:16597617</ref> | |||
==About this Structure== | ==About this Structure== | ||
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==Reference== | ==Reference== | ||
<ref group="xtra">PMID:011060292</ref><references group="xtra"/> | <ref group="xtra">PMID:011060292</ref><references group="xtra"/><references/> | ||
[[Category: Homo sapiens]] | [[Category: Homo sapiens]] | ||
[[Category: Eliseenkova, A V.]] | [[Category: Eliseenkova, A V.]] | ||
Revision as of 20:25, 24 March 2013
CRYSTAL STRUCTURE OF FIBROBLAST GROWTH FACTOR 9 (FGF9)CRYSTAL STRUCTURE OF FIBROBLAST GROWTH FACTOR 9 (FGF9)
Template:ABSTRACT PUBMED 11060292
DiseaseDisease
[FGF9_HUMAN] Defects in FGF9 are the cause of multiple synostoses syndrome type 3 (SYNS3) [MIM:612961]. Multiple synostoses syndrome is an autosomal dominant condition characterized by progressive joint fusions of the fingers, wrists, ankles and cervical spine, characteristic facies and progressive conductive deafness.[1]
FunctionFunction
[FGF9_HUMAN] Plays an important role in the regulation of embryonic development, cell proliferation, cell differentiation and cell migration. May have a role in glial cell growth and differentiation during development, gliosis during repair and regeneration of brain tissue after damage, differentiation and survival of neuronal cells, and growth stimulation of glial tumors.[2][3]
About this StructureAbout this Structure
1ihk is a 1 chain structure with sequence from Homo sapiens. Full crystallographic information is available from OCA.
ReferenceReference
- ↑ Plotnikov AN, Eliseenkova AV, Ibrahimi OA, Shriver Z, Sasisekharan R, Lemmon MA, Mohammadi M. Crystal structure of fibroblast growth factor 9 reveals regions implicated in dimerization and autoinhibition. J Biol Chem. 2001 Feb 9;276(6):4322-9. Epub 2000 Nov 1. PMID:11060292 doi:10.1074/jbc.M006502200
- ↑ Wu XL, Gu MM, Huang L, Liu XS, Zhang HX, Ding XY, Xu JQ, Cui B, Wang L, Lu SY, Chen XY, Zhang HG, Huang W, Yuan WT, Yang JM, Gu Q, Fei J, Chen Z, Yuan ZM, Wang ZG. Multiple synostoses syndrome is due to a missense mutation in exon 2 of FGF9 gene. Am J Hum Genet. 2009 Jul;85(1):53-63. doi: 10.1016/j.ajhg.2009.06.007. PMID:19589401 doi:10.1016/j.ajhg.2009.06.007
- ↑ Ornitz DM, Xu J, Colvin JS, McEwen DG, MacArthur CA, Coulier F, Gao G, Goldfarb M. Receptor specificity of the fibroblast growth factor family. J Biol Chem. 1996 Jun 21;271(25):15292-7. PMID:8663044
- ↑ Zhang X, Ibrahimi OA, Olsen SK, Umemori H, Mohammadi M, Ornitz DM. Receptor specificity of the fibroblast growth factor family. The complete mammalian FGF family. J Biol Chem. 2006 Jun 9;281(23):15694-700. Epub 2006 Apr 4. PMID:16597617 doi:10.1074/jbc.M601252200