3be8: Difference between revisions
No edit summary |
No edit summary |
||
| Line 1: | Line 1: | ||
{{STRUCTURE_3be8| PDB=3be8 | SCENE= }} | {{STRUCTURE_3be8| PDB=3be8 | SCENE= }} | ||
===Crystal structure of the synaptic protein neuroligin 4=== | |||
{{ABSTRACT_PUBMED_18093521}} | |||
=== | ==Disease== | ||
[[http://www.uniprot.org/uniprot/NLGNX_HUMAN NLGNX_HUMAN]] Defects in NLGN4X may be the cause of susceptibility to autism X-linked type 2 (AUTSX2) [MIM:[http://omim.org/entry/300495 300495]]. AUTSX2 is a pervasive developmental disorder (PDD), prototypically characterized by impairments in reciprocal social interaction and communication, restricted and stereotyped patterns of interests and activities, and the presence of developmental abnormalities by 3 years of age.<ref>PMID:12669065</ref> Defects in NLGN4X may be the cause of susceptibility to X-linked Asperger syndrome 2 (ASPGX2) [MIM:[http://omim.org/entry/300497 300497]]. ASPGX2 is considered to be a form of childhood autism. | |||
==Function== | |||
[[http://www.uniprot.org/uniprot/NLGNX_HUMAN NLGNX_HUMAN]] Putative neuronal cell surface protein involved in cell-cell-interactions. | |||
==About this Structure== | ==About this Structure== | ||
| Line 14: | Line 16: | ||
==Reference== | ==Reference== | ||
<ref group="xtra">PMID:018093521</ref><references group="xtra"/> | <ref group="xtra">PMID:018093521</ref><references group="xtra"/><references/> | ||
[[Category: Homo sapiens]] | [[Category: Homo sapiens]] | ||
[[Category: Bourne, Y.]] | [[Category: Bourne, Y.]] | ||
Revision as of 22:43, 24 March 2013
Crystal structure of the synaptic protein neuroligin 4
Template:ABSTRACT PUBMED 18093521
Disease
[NLGNX_HUMAN] Defects in NLGN4X may be the cause of susceptibility to autism X-linked type 2 (AUTSX2) [MIM:300495]. AUTSX2 is a pervasive developmental disorder (PDD), prototypically characterized by impairments in reciprocal social interaction and communication, restricted and stereotyped patterns of interests and activities, and the presence of developmental abnormalities by 3 years of age.[1] Defects in NLGN4X may be the cause of susceptibility to X-linked Asperger syndrome 2 (ASPGX2) [MIM:300497]. ASPGX2 is considered to be a form of childhood autism.
Function
[NLGNX_HUMAN] Putative neuronal cell surface protein involved in cell-cell-interactions.
About this Structure
3be8 is a 2 chain structure with sequence from Homo sapiens. Full crystallographic information is available from OCA.
See Also
Reference
- Fabrichny IP, Leone P, Sulzenbacher G, Comoletti D, Miller MT, Taylor P, Bourne Y, Marchot P. Structural analysis of the synaptic protein neuroligin and its beta-neurexin complex: determinants for folding and cell adhesion. Neuron. 2007 Dec 20;56(6):979-91. PMID:18093521 doi:10.1016/j.neuron.2007.11.013
- ↑ Jamain S, Quach H, Betancur C, Rastam M, Colineaux C, Gillberg IC, Soderstrom H, Giros B, Leboyer M, Gillberg C, Bourgeron T. Mutations of the X-linked genes encoding neuroligins NLGN3 and NLGN4 are associated with autism. Nat Genet. 2003 May;34(1):27-9. PMID:12669065 doi:10.1038/ng1136
