Hs04579336_cn

• Gene Symbol: GAD1
• Assay Reference Genome Location: Chr.2:170815699 on build GRCh38
• Cytoband: 2q31.1

Target Gene Details

• Entrez Gene ID: 2571
• Gene Name: glutamate decarboxylase 1
• Gene Aliases: CPSQ1, GAD, SCP
• Location: Chr.2:170813210-170861151 on Build GRCh38
• Assay Gene Location: Within Intron 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
GAD1	XM_011510922.1			XP_011509224.1

Target Copy Number Variation Details

• DGV Version: Release date: 2016-05-15, GRCh GRCh38

Target Variation	Location	CNV Subtype	Genes
nsv528929	Chr.2:170815681 - 170821869 on Build GRCh38	Loss	GAD1

More Information

• Set Membership: Intragenic, Intronic, Non-exonic, DGV Variation

Panther Classification:

Molecular Function -

decarboxylase

Gene Ontology Categories:

Process(es)

glutamate catabolic process
glutamate decarboxylation to succinate
chemical synaptic transmission
neurotransmitter secretion
gamma-aminobutyric acid biosynthetic process
protein-pyridoxal-5-phosphate linkage
neurotransmitter biosynthetic process
response to drug

Function(s)

glutamate decarboxylase activity
protein binding
glutamate binding
pyridoxal phosphate binding
protein heterodimerization activity
protein N-terminus binding