GAD1 iso1 Human

GAD1 exists in multiple isoforms due to alternative splicing. The most well-known isoform is Isoform-1, which is a single, non-glycosylated polypeptide chain consisting of 617 amino acids and has a molecular mass of approximately 69.3 kDa . This isoform is produced in E. coli and is fused to a 23 amino acid His-tag at the N-terminus for purification purposes .

The primary function of GAD1 is to synthesize GABA from glutamate. GABA is essential for regulating neuronal excitability throughout the nervous system. It is involved in various brain functions, including memory, learning, and locomotion . The enzyme’s activity is crucial for maintaining the balance between excitation and inhibition in the brain, which is vital for normal brain function and preventing neurological disorders.

GAD1 has been identified as a major autoantigen in insulin-dependent diabetes mellitus (Type 1 diabetes). Autoantibodies against GAD1 are often present in individuals with this condition, making it a significant marker for the disease . Additionally, alterations in GAD1 expression and function have been linked to various neurological and psychiatric disorders, including epilepsy, schizophrenia, and bipolar disorder .

The recombinant form of GAD1 Isoform-1 is produced using E. coli expression systems. This recombinant protein is used in various research applications, including studies on enzyme function, autoimmunity, and the development of therapeutic interventions . The recombinant GAD1 Isoform-1 is typically provided as a sterile filtered, colorless solution containing 20mM Tris-HCl buffer (pH 8.0) and 10% glycerol for stability .

For optimal stability, the recombinant GAD1 Isoform-1 should be stored at -20°C for long-term storage. It is recommended to add a carrier protein, such as 0.1% HSA or BSA, to prevent degradation during storage. Avoiding multiple freeze-thaw cycles is also crucial to maintain the protein’s integrity .