Statements (23)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:gene
|
| gptkbp:alternativeName |
gptkb:alpha-tubulin_1A
|
| gptkbp:associatedWith |
cortical dysplasia
lissencephaly |
| gptkbp:discoveredIn |
1990s
|
| gptkbp:encodes |
gptkb:Tubulin_alpha-1A_chain
|
| gptkbp:Entrez_Gene_ID |
gptkb:ENSG00000167552
7846 |
| gptkbp:expressedIn |
brain
|
| gptkbp:function |
cytoskeleton organization
microtubule formation |
| gptkbp:geneType |
protein-coding
|
| gptkbp:HGNC_ID |
gptkb:HGNC:12403
|
| https://www.w3.org/2000/01/rdf-schema#label |
TUBA1A
|
| gptkbp:locatedOnChromosome |
12q13.12
|
| gptkbp:mutationAssociatedWith |
neuronal migration disorder
|
| gptkbp:OMIM |
602529
|
| gptkbp:organism |
gptkb:Homo_sapiens
|
| gptkbp:orthologInMouse |
gptkb:Tuba1a
|
| gptkbp:proteinFamily |
tubulin
|
| gptkbp:UniProtID |
gptkb:Q71U36
|
| gptkbp:bfsParent |
gptkb:chromosome_12
|
| gptkbp:bfsLayer |
6
|