Statements (23)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:gene
|
| gptkbp:alternativeSplicing |
yes
|
| gptkbp:associatedWith |
muscular dystrophy
left ventricular noncompaction |
| gptkbp:discoveredIn |
1998
|
| gptkbp:encodes |
alpha-dystrobrevin protein
|
| gptkbp:Entrez_Gene_ID |
1838
|
| gptkbp:expressedIn |
gptkb:skeletal_muscle
cardiac muscle |
| gptkbp:fullName |
dystrobrevin alpha gene
|
| gptkbp:function |
structural component of muscle fibers
|
| gptkbp:HGNC_ID |
HGNC:3082
|
| https://www.w3.org/2000/01/rdf-schema#label |
DTNA gene
|
| gptkbp:locatedOnChromosome |
gptkb:chromosome_18
gptkb:18q12.1 |
| gptkbp:mutationAssociatedWith |
cardiomyopathy
|
| gptkbp:OMIM |
601239
|
| gptkbp:organism |
gptkb:Homo_sapiens
|
| gptkbp:orthologInMouse |
Dtna
|
| gptkbp:proteinFamily |
gptkb:dystrophin-associated_protein_complex
|
| gptkbp:UniProtID |
O60941
|
| gptkbp:bfsParent |
gptkb:dystrobrevin
|
| gptkbp:bfsLayer |
7
|