Statements (24)
Predicate | Object |
---|---|
gptkbp:instanceOf |
gptkb:gene
|
gptkbp:associatedWith |
gptkb:amelogenesis_imperfecta
gptkb:junctional_epidermolysis_bullosa |
gptkbp:discoveredIn |
1993
|
gptkbp:encodes |
gptkb:laminin_subunit_beta-3
|
gptkbp:Entrez_Gene_ID |
3914
|
gptkbp:expressedIn |
gptkb:skin
epithelial tissues |
gptkbp:function |
cell adhesion
basement membrane assembly |
gptkbp:HGNC_ID |
6487
|
https://www.w3.org/2000/01/rdf-schema#label |
LAMB3
|
gptkbp:locatedOnChromosome |
chromosome 1
1q32.2 |
gptkbp:mutationAssociatedWith |
skin blistering
tooth enamel defects |
gptkbp:OMIM |
150310
|
gptkbp:orthologInMouse |
gptkb:Lamb3
|
gptkbp:partOf |
gptkb:laminin-332_complex
|
gptkbp:species |
gptkb:Homo_sapiens
|
gptkbp:UniProtID |
Q13751
|
gptkbp:bfsParent |
gptkb:chromosome_1q32
gptkb:laminin |
gptkbp:bfsLayer |
7
|