GAD1

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

Isoform 3

Enzymatically inactive as glutamate decarboxylase.

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.

Belongs to the group II decarboxylase family.

Isoform 1

Expressed in brain.

Isoform 3

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

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

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

Proteins

Neuroscience

66897Da