3vp6
From Proteopedia
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{{STRUCTURE_3vp6| PDB=3vp6 | SCENE= }} | {{STRUCTURE_3vp6| PDB=3vp6 | SCENE= }} | ||
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===Structural characterization of Glutamic Acid Decarboxylase; insights into the mechanism of autoinactivation=== | ===Structural characterization of Glutamic Acid Decarboxylase; insights into the mechanism of autoinactivation=== | ||
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{{ABSTRACT_PUBMED_23126365}} | {{ABSTRACT_PUBMED_23126365}} | ||
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| + | ==Disease== | ||
| + | [[http://www.uniprot.org/uniprot/DCE1_HUMAN DCE1_HUMAN]] Defects in GAD1 are the cause of cerebral palsy spastic quadriplegic type 1 (CPSQ1) [MIM:[http://omim.org/entry/603513 603513]]. A non-progressive disorder of movement and/or posture resulting from defects in the developing central nervous system. Affected individuals manifest symmetrical, non-progressive spasticity and no adverse perinatal history or obvious underlying alternative diagnosis. Developmental delay, mental retardation and sometimes epilepsy can be part of the clinical picture.<ref>PMID:15571623</ref> | ||
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| + | ==Function== | ||
| + | [[http://www.uniprot.org/uniprot/DCE1_HUMAN DCE1_HUMAN]] Catalyzes the production of GABA. | ||
==About this Structure== | ==About this Structure== | ||
[[3vp6]] is a 2 chain structure with sequence from [http://en.wikipedia.org/wiki/Bacteroides_caccae Bacteroides caccae]. Full crystallographic information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=3VP6 OCA]. | [[3vp6]] is a 2 chain structure with sequence from [http://en.wikipedia.org/wiki/Bacteroides_caccae Bacteroides caccae]. Full crystallographic information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=3VP6 OCA]. | ||
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| + | ==Reference== | ||
| + | <references group="xtra"/><references/> | ||
[[Category: Bacteroides caccae]] | [[Category: Bacteroides caccae]] | ||
[[Category: Glutamate decarboxylase]] | [[Category: Glutamate decarboxylase]] | ||
Revision as of 05:21, 25 March 2013
Contents |
Structural characterization of Glutamic Acid Decarboxylase; insights into the mechanism of autoinactivation
Template:ABSTRACT PUBMED 23126365
Disease
[DCE1_HUMAN] Defects in GAD1 are the cause of cerebral palsy spastic quadriplegic type 1 (CPSQ1) [MIM:603513]. A non-progressive disorder of movement and/or posture resulting from defects in the developing central nervous system. Affected individuals manifest symmetrical, non-progressive spasticity and no adverse perinatal history or obvious underlying alternative diagnosis. Developmental delay, mental retardation and sometimes epilepsy can be part of the clinical picture.[1]
Function
[DCE1_HUMAN] Catalyzes the production of GABA.
About this Structure
3vp6 is a 2 chain structure with sequence from Bacteroides caccae. Full crystallographic information is available from OCA.
Reference
- ↑ Lynex CN, Carr IM, Leek JP, Achuthan R, Mitchell S, Maher ER, Woods CG, Bonthon DT, Markham AF. Homozygosity for a missense mutation in the 67 kDa isoform of glutamate decarboxylase in a family with autosomal recessive spastic cerebral palsy: parallels with Stiff-Person Syndrome and other movement disorders. BMC Neurol. 2004 Nov 30;4(1):20. PMID:15571623 doi:10.1186/1471-2377-4-20
