Entity Details

Primary name GAD1
Entity type gene
Source Source Link

Details

PrimaryID2571
RefseqGeneNG_021477
SymbolGAD1
Nameglutamate decarboxylase 1
Chromosome2
Location2q31.1
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate1992-11-25
ModificationDate2021-06-19

Ontological Relatives

UniProt IDsDCE1_HUMAN

GO terms

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GOName
GO:0004351 glutamate decarboxylase activity
GO:0005886 plasma membrane
GO:0005938 cell cortex
GO:0006538 glutamate catabolic process
GO:0006540 glutamate decarboxylation to succinate
GO:0007268 chemical synaptic transmission
GO:0007269 neurotransmitter secretion
GO:0009449 gamma-aminobutyric acid biosynthetic process
GO:0012506 vesicle membrane
GO:0016595 glutamate binding
GO:0018352 protein-pyridoxal-5-phosphate linkage
GO:0030170 pyridoxal phosphate binding
GO:0035176 social behavior
GO:0035641 locomotory exploration behavior
GO:0042136 neurotransmitter biosynthetic process
GO:0042493 response to drug
GO:0043679 axon terminus
GO:0044877 protein-containing complex binding
GO:0047485 protein N-terminus binding
GO:0048786 presynaptic active zone
GO:0060077 inhibitory synapse
GO:0061202 clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane

Diseases

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Disease IDSourceNameDescription
603513 OMIMCerebral 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. The disease is caused by variants affecting the gene represented in this entry.