Statements (29)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:gene
|
| gptkbp:alternativeName |
gptkb:platelet-activating_factor_acetylhydrolase_IB_subunit_alpha
LIS1 |
| gptkbp:associatedWith |
lissencephaly
Miller-Dieker syndrome |
| gptkbp:discoveredBy |
Reiner et al.
|
| gptkbp:discoveredIn |
1993
|
| gptkbp:encodes |
LIS1 protein
|
| gptkbp:Entrez_Gene_ID |
5048
|
| gptkbp:expressedIn |
brain
|
| gptkbp:function |
microtubule dynamics
regulation of neuronal migration |
| gptkbp:geneType |
protein-coding
|
| gptkbp:HGNC_ID |
HGNC:8603
|
| https://www.w3.org/2000/01/rdf-schema#label |
PAFAH1B1
|
| gptkbp:interactsWith |
gptkb:dynein
NDEL1 NUDC |
| gptkbp:locatedOnChromosome |
gptkb:chromosome_17
gptkb:17p13.3 |
| gptkbp:mutationAssociatedWith |
causes Miller-Dieker lissencephaly syndrome
causes classical lissencephaly |
| gptkbp:OMIM |
601545
|
| gptkbp:orthologInMouse |
Pafah1b1
|
| gptkbp:proteinFamily |
WD repeat protein family
|
| gptkbp:UniProtID |
P43034
|
| gptkbp:bfsParent |
gptkb:17p13.2
gptkb:17p13 |
| gptkbp:bfsLayer |
7
|