3vp6
From Proteopedia
(Difference between revisions)
| Line 4: | Line 4: | ||
==Disease== | ==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> | + | [[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== | ==Function== | ||
| Line 13: | Line 13: | ||
==Reference== | ==Reference== | ||
| - | <references group="xtra"/><references/> | + | <ref group="xtra">PMID:023126365</ref><references group="xtra"/><references/> |
[[Category: Bacteroides caccae]] | [[Category: Bacteroides caccae]] | ||
[[Category: Glutamate decarboxylase]] | [[Category: Glutamate decarboxylase]] | ||
Revision as of 06:25, 14 August 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
- Langendorf CG, Tuck KL, Key TL, Fenalti G, Pike RN, Rosado CJ, Wong AS, Buckle AM, Law RH, Whisstock JC. Structural characterization on the mechanism of auto-inactivation for Human Glutamic Acid Decarboxylase. Biosci Rep. 2012 Nov 5. PMID:23126365 doi:10.1042/BSR20120111
- ↑ 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
