2okj: Difference between revisions
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{{STRUCTURE_2okj| PDB=2okj | SCENE= }} | {{STRUCTURE_2okj| PDB=2okj | SCENE= }} | ||
===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> | |||
==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]] | ||
