1um7
From Proteopedia
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{{STRUCTURE_1um7| PDB=1um7 | SCENE= }} | {{STRUCTURE_1um7| PDB=1um7 | SCENE= }} | ||
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===Solution structure of the third PDZ domain of synapse-associated protein 102=== | ===Solution structure of the third PDZ domain of synapse-associated protein 102=== | ||
| + | ==Disease== | ||
| + | [[http://www.uniprot.org/uniprot/DLG3_HUMAN DLG3_HUMAN]] Defects in DLG3 are the cause of mental retardation X-linked type 90 (MRX90) [MIM:[http://omim.org/entry/300850 300850]]. Mental retardation is 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:15185169</ref> | ||
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| + | ==Function== | ||
| + | [[http://www.uniprot.org/uniprot/DLG3_HUMAN DLG3_HUMAN]] Required for learning most likely through its role in synaptic plasticity following NMDA receptor signaling. | ||
==About this Structure== | ==About this Structure== | ||
[[1um7]] 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=1UM7 OCA]. | [[1um7]] 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=1UM7 OCA]. | ||
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| + | ==Reference== | ||
| + | <references group="xtra"/><references/> | ||
[[Category: Homo sapiens]] | [[Category: Homo sapiens]] | ||
[[Category: Hayashi, F.]] | [[Category: Hayashi, F.]] | ||
Revision as of 06:24, 25 March 2013
Contents |
Solution structure of the third PDZ domain of synapse-associated protein 102
Disease
[DLG3_HUMAN] Defects in DLG3 are the cause of mental retardation X-linked type 90 (MRX90) [MIM:300850]. Mental retardation is 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]
Function
[DLG3_HUMAN] Required for learning most likely through its role in synaptic plasticity following NMDA receptor signaling.
About this Structure
1um7 is a 1 chain structure with sequence from Homo sapiens. Full experimental information is available from OCA.
Reference
- ↑ Tarpey P, Parnau J, Blow M, Woffendin H, Bignell G, Cox C, Cox J, Davies H, Edkins S, Holden S, Korny A, Mallya U, Moon J, O'Meara S, Parker A, Stephens P, Stevens C, Teague J, Donnelly A, Mangelsdorf M, Mulley J, Partington M, Turner G, Stevenson R, Schwartz C, Young I, Easton D, Bobrow M, Futreal PA, Stratton MR, Gecz J, Wooster R, Raymond FL. Mutations in the DLG3 gene cause nonsyndromic X-linked mental retardation. Am J Hum Genet. 2004 Aug;75(2):318-24. Epub 2004 Jun 7. PMID:15185169 doi:10.1086/422703
