3vp6 | pdb_00003vp6
From Proteopedia
Structural characterization of Glutamic Acid Decarboxylase; insights into the mechanism of autoinactivation
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
