1wyr: Difference between revisions
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{{STRUCTURE_1wyr| PDB=1wyr | SCENE= }} | {{STRUCTURE_1wyr| PDB=1wyr | SCENE= }} | ||
===Solution structure of the CH domain of human Rho guanine nucleotide exchange factor 6=== | |||
=== | ==Disease== | ||
[[http://www.uniprot.org/uniprot/ARHG6_HUMAN ARHG6_HUMAN]] Defects in ARHGEF6 are the cause of mental retardation X-linked type 46 (MRX46) [MIM:[http://omim.org/entry/300436 300436]]. Mental retardation is a mental disorder characterized by significantly sub-average general intellectual functioning associated with impairments in adaptative behavior and manifested during the developmental period. Non-syndromic mental retardation patients do not manifest other clinical signs.<ref>PMID:11017088</ref> | |||
==Function== | |||
[[http://www.uniprot.org/uniprot/ARHG6_HUMAN ARHG6_HUMAN]] Acts as a RAC1 guanine nucleotide exchange factor (GEF). | |||
==About this Structure== | ==About this Structure== | ||
[[1wyr]] is a 1 chain structure with sequence from [http://en.wikipedia.org/wiki/Homo_sapiens Homo sapiens]. Full experimental information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=1WYR OCA]. | [[1wyr]] is a 1 chain structure with sequence from [http://en.wikipedia.org/wiki/Homo_sapiens Homo sapiens]. Full experimental information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=1WYR OCA]. | ||
==Reference== | |||
<references group="xtra"/><references/> | |||
[[Category: Homo sapiens]] | [[Category: Homo sapiens]] | ||
[[Category: Inoue, M.]] | [[Category: Inoue, M.]] | ||
Revision as of 19:35, 24 March 2013
Solution structure of the CH domain of human Rho guanine nucleotide exchange factor 6Solution structure of the CH domain of human Rho guanine nucleotide exchange factor 6
DiseaseDisease
[ARHG6_HUMAN] Defects in ARHGEF6 are the cause of mental retardation X-linked type 46 (MRX46) [MIM:300436]. Mental retardation is a mental disorder characterized by significantly sub-average general intellectual functioning associated with impairments in adaptative behavior and manifested during the developmental period. Non-syndromic mental retardation patients do not manifest other clinical signs.[1]
FunctionFunction
[ARHG6_HUMAN] Acts as a RAC1 guanine nucleotide exchange factor (GEF).
About this StructureAbout this Structure
1wyr is a 1 chain structure with sequence from Homo sapiens. Full experimental information is available from OCA.
ReferenceReference
- ↑ Kutsche K, Yntema H, Brandt A, Jantke I, Nothwang HG, Orth U, Boavida MG, David D, Chelly J, Fryns JP, Moraine C, Ropers HH, Hamel BC, van Bokhoven H, Gal A. Mutations in ARHGEF6, encoding a guanine nucleotide exchange factor for Rho GTPases, in patients with X-linked mental retardation. Nat Genet. 2000 Oct;26(2):247-50. PMID:11017088 doi:10.1038/80002