Isoform 3 is expressed in pancreatic islets, testis, adrenal cortex, and perhaps other endocrine tissues, but not in brain.
Involvement in disease
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.
The application notes include recommended starting dilutions; optimal dilutions/concentrations should be determined by the end user.
Real Time PCR
Use at an assay dependent dilution. Suitable for the analysis of chromatin immunoprecipitated DNA using Taqman® real time PCR.
Quantity provided for 200 reactions. Please see the protocol page for the instructions for this product.