Statements (24)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:gene
|
| gptkbp:associatedWith |
gptkb:autism_spectrum_disorder
gptkb:Angelman_syndrome gptkb:Prader-Willi_syndrome epilepsy |
| gptkbp:discoveredBy |
gptkb:Matsubara_et_al.
|
| gptkbp:discoveredIn |
1991
|
| gptkbp:encodes |
gptkb:Gamma-aminobutyric_acid_receptor_subunit_beta-3
|
| gptkbp:Entrez_Gene_ID |
2562
|
| gptkbp:expressedIn |
brain
|
| gptkbp:function |
mediates inhibitory neurotransmission
|
| gptkbp:HGNC_ID |
HGNC:4062
|
| https://www.w3.org/2000/01/rdf-schema#label |
GABRB3
|
| gptkbp:locatedOnChromosome |
gptkb:chromosome_15
gptkb:15q11-q13 |
| gptkbp:mutationAssociatedWith |
can cause childhood absence epilepsy
can cause intellectual disability |
| gptkbp:OMIM |
137192
|
| gptkbp:organism |
gptkb:Homo_sapiens
|
| gptkbp:orthologInMouse |
gptkb:Gabrb3
|
| gptkbp:proteinFamily |
GABA-A receptor subunit
|
| gptkbp:UniProtID |
P28472
|
| gptkbp:bfsParent |
gptkb:chromosome_15
|
| gptkbp:bfsLayer |
6
|