Statements (19)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:gene
|
| gptkbp:alias |
Smith-Magenis syndrome chromosome region candidate gene 8
|
| gptkbp:associatedWith |
amyotrophic lateral sclerosis
frontotemporal dementia C9orf72-SMCR8 complex |
| gptkbp:encodes |
gptkb:SMCR8_protein
|
| gptkbp:Entrez_Gene_ID |
23113
ENSG00000164896 |
| gptkbp:expressedIn |
gptkb:human
|
| gptkbp:HGNC_ID |
gptkb:HGNC:25501
|
| https://www.w3.org/2000/01/rdf-schema#label |
SMCR8 gene
|
| gptkbp:involvedIn |
autophagy regulation
lysosomal homeostasis |
| gptkbp:locatedOnChromosome |
chromosome 8
|
| gptkbp:mutationAssociatedWith |
neurodegeneration
|
| gptkbp:orthologInMouse |
Smcr8
|
| gptkbp:UniProtID |
Q8IYB7
|
| gptkbp:bfsParent |
gptkb:SMCR8_protein
|
| gptkbp:bfsLayer |
7
|