GAD1

Function

Catalyzes the production of GABA.

Involvement in disease

Cerebral palsy, spastic quadriplegic 1

CPSQ1

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.

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

Alternative names

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

Database links

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

Target type

Proteins

Primary research area

Neuroscience

Molecular weight

66897Da