Statements (17)
Predicate | Object |
---|---|
gptkbp:instanceOf |
gptkb:gene
|
gptkbp:associatedWith |
gptkb:Leigh_syndrome
|
gptkbp:discoveredIn |
gptkb:human
|
gptkbp:encodes |
SURF1 protein
|
gptkbp:Entrez_Gene_ID |
6834
|
gptkbp:expressedIn |
mitochondria
|
gptkbp:fullName |
gptkb:surfeit_locus_protein_1
|
gptkbp:function |
assembly of cytochrome c oxidase (complex IV)
|
gptkbp:HGNC_ID |
11485
|
https://www.w3.org/2000/01/rdf-schema#label |
Surf1
|
gptkbp:locatedOnChromosome |
gptkb:chromosome_9
|
gptkbp:mutationAssociatedWith |
gptkb:mitochondrial_complex_IV_deficiency
|
gptkbp:OMIM |
185620
|
gptkbp:orthologInMouse |
gptkb:Surf1
|
gptkbp:UniProtID |
O75563
|
gptkbp:bfsParent |
gptkb:SURF1
|
gptkbp:bfsLayer |
7
|