glutamate decarboxylase 1 (glutamate decarboxylase 67 kD isoform, GAD1, GAD67)
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Function
- catalyzes production of GABA
L-glutamate <--> 4-aminobutanoate + CO2
Cofactor: pyridoxal phosphate
Structure
- homodimer
- belongs to the group II decarboxylase family
Alternative splicing
named isoforms=3
Expression
- expressed in brain
- isoform 3 is expressed in pancreatic islets, testis, adrenal cortex, & perhaps other endocrine tissues but not expressed in brain
Pathology
- defects in GAD1 are the cause of autosomal recessive symmetric spastic cerebral palsy
More general terms
References
- ↑ UniProt http://www.uniprot.org/uniprot/Q99259.html
- ↑ OMIM https://mirror.omim.org/entry/266100
- ↑ Wikipedia, glutamate decarboxylase entry http://en.wikipedia.org/wiki/Glutamate_decarboxylase