Statements (23)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:gene
|
| gptkbp:alternativeSplicing |
yes
|
| gptkbp:associatedWith |
Epilepsy
Hyperekplexia Molybdenum cofactor deficiency |
| gptkbp:encodes |
gephyrin
|
| gptkbp:Entrez_Gene_ID |
10243
ENSG00000171723 |
| gptkbp:expressedIn |
gptkb:spinal_cord
brain |
| gptkbp:fullName |
gptkb:glycine_decarboxylase
|
| gptkbp:function |
inhibitory synapse formation
postsynaptic scaffolding protein |
| https://www.w3.org/2000/01/rdf-schema#label |
GPHN
|
| gptkbp:locatedOnChromosome |
gptkb:chromosome_14
|
| gptkbp:mutationAssociatedWith |
neurological disorders
|
| gptkbp:OMIM |
603930
|
| gptkbp:organism |
gptkb:Homo_sapiens
|
| gptkbp:orthologInMouse |
Gphn
|
| gptkbp:product |
gephyrin
|
| gptkbp:UniProtID |
Q9NQX3
|
| gptkbp:bfsParent |
gptkb:chromosome_14
|
| gptkbp:bfsLayer |
7
|