GAD1

GeneName

GAD1

Summary

GAD1, also known as GAD or GAD67, is a 67 kDa enzyme that plays a pivotal role in the synthesis of gamma-aminobutyric acid (GABA), the primary inhibitory neurotransmitter in the central nervous system. It is predominantly expressed in GABAergic neurons and is localised to various cellular components, including the axon terminus, plasma membrane, and GABA-ergic synapses. GAD1 catalyses the decarboxylation of glutamate to GABA, thereby participating in chemical synaptic transmission and influencing neuronal excitability. Its activity is essential for maintaining the balance between excitation and inhibition in the brain, which is crucial for normal cognitive and motor functions.

Importance

GAD1 is relevant to: - Neurotransmission and synaptic plasticity, as it regulates GABA levels and influences neuronal communication - Neurological disorders, including epilepsy, anxiety, and schizophrenia, due to its role in GABA biosynthesis - Behavioural studies, as it has been implicated in locomotory exploration and social behaviour - Potential therapeutic targets for enhancing GABAergic function in various psychiatric and neurological conditions

Top Products

For researchers investigating GAD1, we recommend two excellent primary antibodies. The first is the well-cited monoclonal antibody, Anti-GAD67/GAD1 antibody [K-87] (ab26116), which has garnered 138 citations, reflecting its strong reputation in the field. This antibody is versatile, suitable for immunohistochemistry (IHC), western blotting (WB), immunocytochemistry (ICC), and flow cytometry (FC). Additionally, we offer the recombinant antibody, Anti-GAD65 + GAD67 antibody [EPR19366] (ab183999). This product has been validated for use in IHC, WB, ICC, and immunoprecipitation (IP), making it a robust choice for researchers seeking reliable detection of GAD1. With 31 citations, it is also gaining traction in the research community. Together, these antibodies provide a comprehensive toolkit for studying GAD1 effectively. The Human GAD67/GAD1 ELISA Kit (ab243677) is an excellent option for researchers looking to measure GAD1 levels in their samples.

Abcam Product Citation Summary

The data indicates that GAD1 is frequently studied in the context of neurological research, particularly in relation to GABAergic and glutamatergic pathways. Various studies have employed both immunofluorescence and Western blotting techniques across different species, including humans and mice, to explore the effects of factors such as exercise, leptin, and T. gondii infection on GAD1 expression. This suggests a significant interest in understanding the role of GAD1 in various neurological conditions and responses.

Abcam Product Citation Table

Function

Catalyzes the synthesis of the inhibitory neurotransmitter gamma-aminobutyric acid (GABA) with pyridoxal 5'-phosphate as cofactor.

Isoform 3

Enzymatically inactive as glutamate decarboxylase.

Involvement in disease

Developmental and epileptic encephalopathy 89

DEE89

A form of epileptic encephalopathy, a heterogeneous group of early-onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. DEE89 is an autosomal recessive severe form characterized by profound global developmental delay with impaired intellectual development, absent speech, inability to sit or walk due to axial hypotonia and spastic quadriparesis, and onset of seizures in the first days or months of life.

None

The disease is caused by variants affecting the gene represented in this entry.

Sequence Similarities

Belongs to the group II decarboxylase family.

Tissue Specificity

Isoform 1

Expressed in brain.

Isoform 3

Expressed in pancreatic islets, testis, adrenal cortex, and perhaps other endocrine tissues, but not in brain.

Alternative names

GAD, GAD67, GAD1, Glutamate decarboxylase 1, 67 kDa glutamic acid decarboxylase, Glutamate decarboxylase 67 kDa isoform, GAD-67

Database links

swissprot:Q99259 entrezGene:2572 omim:605363 omim:138275 entrezGene:2571