Statements (19)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:gene
|
| gptkbp:associatedWith |
mitochondrial function
mitochondrial complex III assembly |
| gptkbp:discoveredIn |
1995
|
| gptkbp:encodes |
gptkb:BCS1L_protein
|
| gptkbp:Entrez_Gene_ID |
617
|
| gptkbp:expressedIn |
mitochondria
|
| gptkbp:function |
chaperone protein for complex III assembly
|
| gptkbp:HGNC_ID |
HGNC:1016
|
| https://www.w3.org/2000/01/rdf-schema#label |
BCS1L
|
| gptkbp:locatedOnChromosome |
chromosome 2
|
| gptkbp:mutationAssociatedWith |
gptkb:Bjornstad_syndrome
gptkb:GRACILE_syndrome mitochondrial complex III deficiency |
| gptkbp:OMIM |
603647
|
| gptkbp:organism |
gptkb:Homo_sapiens
|
| gptkbp:UniProtID |
P51587
|
| gptkbp:bfsParent |
gptkb:BCS1
|
| gptkbp:bfsLayer |
7
|