Statements (24)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:gene
|
| gptkbp:alternativeName |
gptkb:KRIT1
Krev interaction trapped 1 |
| gptkbp:associatedWith |
cerebral cavernous malformations
|
| gptkbp:discoveredIn |
1999
|
| gptkbp:encodes |
KRIT1 protein
|
| gptkbp:Entrez_Gene_ID |
889
|
| gptkbp:function |
regulation of endothelial cell junctions
maintenance of vascular integrity |
| gptkbp:geneType |
protein-coding
|
| gptkbp:HGNC_ID |
HGNC:1572
|
| https://www.w3.org/2000/01/rdf-schema#label |
CCM1 gene
|
| gptkbp:inheritance |
autosomal dominant
|
| gptkbp:locatedOnChromosome |
gptkb:chromosome_7
gptkb:7q21.2 |
| gptkbp:mutationAssociatedWith |
loss-of-function
vascular malformations in the brain |
| gptkbp:numberOfExons |
16
|
| gptkbp:OMIM |
604214
|
| gptkbp:orthologInMouse |
Krit1
|
| gptkbp:species |
gptkb:Homo_sapiens
|
| gptkbp:UniProtID |
O00522
|
| gptkbp:bfsParent |
gptkb:Cerebral_Cavernous_Malformation_Protein
|
| gptkbp:bfsLayer |
7
|