Statements (22)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:gene
|
| gptkbp:alias |
gptkb:SURF-1
SURF1, surfeit locus protein 1 |
| gptkbp:associatedWith |
gptkb:Leigh_syndrome
cytochrome c oxidase deficiency |
| gptkbp:discoveredIn |
1998
|
| gptkbp:encodes |
gptkb:surfeit_locus_protein_1
|
| gptkbp:Entrez_Gene_ID |
6834
|
| gptkbp:expressedIn |
mitochondria
|
| gptkbp:function |
assembly of cytochrome c oxidase (complex IV)
|
| gptkbp:HGNC_ID |
11485
|
| https://www.w3.org/2000/01/rdf-schema#label |
SURF1
|
| gptkbp:length |
300 amino acids
|
| gptkbp:locatedOnChromosome |
gptkb:chromosome_9
|
| gptkbp:location |
9q34.2
|
| gptkbp:mutationAssociatedWith |
mitochondrial dysfunction
|
| gptkbp:OMIM |
185620
|
| gptkbp:organism |
gptkb:Homo_sapiens
|
| gptkbp:orthologInMouse |
gptkb:Surf1
|
| gptkbp:UniProtID |
gptkb:O75600
|
| gptkbp:bfsParent |
gptkb:Charcot-Marie-Tooth_disease
|
| gptkbp:bfsLayer |
6
|