2okj
From Proteopedia
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{{STRUCTURE_2okj| PDB=2okj | SCENE= }} | {{STRUCTURE_2okj| PDB=2okj | SCENE= }} | ||
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===The X-ray crystal structure of the 67kDa isoform of Glutamic Acid Decarboxylase (GAD67)=== | ===The X-ray crystal structure of the 67kDa isoform of Glutamic Acid Decarboxylase (GAD67)=== | ||
| + | {{ABSTRACT_PUBMED_17384644}} | ||
| - | + | ==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== | ||
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==Reference== | ==Reference== | ||
| - | <ref group="xtra">PMID:017384644</ref><references group="xtra"/> | + | <ref group="xtra">PMID:017384644</ref><references group="xtra"/><references/> |
[[Category: Glutamate decarboxylase]] | [[Category: Glutamate decarboxylase]] | ||
[[Category: Homo sapiens]] | [[Category: Homo sapiens]] | ||
Revision as of 04:54, 25 March 2013
Contents |
The X-ray crystal structure of the 67kDa isoform of Glutamic Acid Decarboxylase (GAD67)
Template:ABSTRACT PUBMED 17384644
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
2okj is a 2 chain structure with sequence from Homo sapiens. Full crystallographic information is available from OCA.
Reference
- Fenalti G, Law RH, Buckle AM, Langendorf C, Tuck K, Rosado CJ, Faux NG, Mahmood K, Hampe CS, Banga JP, Wilce M, Schmidberger J, Rossjohn J, El-Kabbani O, Pike RN, Smith AI, Mackay IR, Rowley MJ, Whisstock JC. GABA production by glutamic acid decarboxylase is regulated by a dynamic catalytic loop. Nat Struct Mol Biol. 2007 Apr;14(4):280-6. Epub 2007 Mar 25. PMID:17384644 doi:10.1038/nsmb1228
- ↑ 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
