Statements (28)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:gene
|
| gptkbp:alias |
KIAA0567
dynamin-like 120 kDa protein, mitochondrial optic atrophy 1 (autosomal dominant) |
| gptkbp:alternativeSplicing |
yes
|
| gptkbp:associatedWith |
autosomal dominant optic atrophy
|
| gptkbp:discoveredBy |
Alexander et al.
|
| gptkbp:encodes |
dynamin-like 120 kDa protein, mitochondrial
|
| gptkbp:Entrez_Gene_ID |
4976
|
| gptkbp:expressedIn |
mitochondria
|
| gptkbp:firstDescribed |
2000
|
| gptkbp:function |
regulation of apoptosis
mitochondrial fusion maintenance of mitochondrial cristae structure |
| gptkbp:HGNC_ID |
8147
|
| https://www.w3.org/2000/01/rdf-schema#label |
OPA1
|
| gptkbp:locatedOnChromosome |
gptkb:chromosome_3
|
| gptkbp:mutationAssociatedWith |
optic atrophy type 1
|
| gptkbp:OMIM |
605290
|
| gptkbp:organism |
gptkb:Homo_sapiens
|
| gptkbp:orthologIn |
gptkb:Danio_rerio
gptkb:Mus_musculus gptkb:Drosophila_melanogaster |
| gptkbp:proteinFamily |
gptkb:dynamin_family
|
| gptkbp:UniProtID |
O60313
|
| gptkbp:bfsParent |
gptkb:Dynamin_family
gptkb:MFN2 |
| gptkbp:bfsLayer |
7
|