GAD1

GAD1 or Glutamate Decarboxylase 1 is a human gene that encodes the enzyme glutamate decarboxylase which is responsible for the production of gamma-aminobutyric acid (GABA), the primary inhibitory neurotransmitter in the mammalian central nervous system.

Function

The GAD1 gene is located on the short (p) arm of chromosome 2 at position 31.1. The encoded protein, Glutamate Decarboxylase 1, is one of two forms of glutamate decarboxylase, a pyridoxal phosphate-dependent enzyme that catalyzes the decarboxylation of glutamate to GABA and carbon dioxide. The enzyme's function is vital for the synthesis of GABA, which plays a key role in the regulation of nerve cell activity in the brain.

Clinical Significance

Alterations in the GAD1 gene have been associated with several neurological and psychiatric conditions, including schizophrenia, bipolar disorder, and epilepsy. Studies have shown that decreased GAD1 expression may contribute to the pathophysiology of these disorders.

Research

Research into the GAD1 gene and its associated protein continues to provide valuable insights into the workings of the nervous system and the molecular mechanisms underlying various neurological disorders.

See Also

• GAD2
• Gamma-aminobutyric acid
• Neurotransmitter
• Schizophrenia
• Bipolar disorder
• Epilepsy

References

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