Statements (28)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:gene
|
| gptkbp:alternativeName |
gamma-actin
ACTG DFNA20/26 actin, cytoplasmic 2 |
| gptkbp:associatedWith |
Baraitser-Winter syndrome
deafness, autosomal dominant 20 |
| gptkbp:encodes |
gamma-actin protein
|
| gptkbp:Entrez_Gene_ID |
71
ENSG00000184009 |
| gptkbp:expressedIn |
all eukaryotic cells
|
| gptkbp:fullName |
actin gamma 1
|
| gptkbp:function |
muscle contraction
cell motility cell shape maintenance cytoskeletal structural protein |
| gptkbp:HGNC_ID |
HGNC:126
|
| https://www.w3.org/2000/01/rdf-schema#label |
ACTG1 gene
|
| gptkbp:locatedOnChromosome |
17
17q25.3 |
| gptkbp:mutationAssociatedWith |
developmental disorders
hearing loss |
| gptkbp:organism |
gptkb:Homo_sapiens
|
| gptkbp:orthologInMouse |
Actg1
|
| gptkbp:proteinFamily |
actin family
|
| gptkbp:UniProtID |
P63261
|
| gptkbp:bfsParent |
gptkb:actin
|
| gptkbp:bfsLayer |
7
|