Statements (18)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:gene
|
| gptkbp:alternativeName |
ATL1
|
| gptkbp:associatedWith |
hereditary spastic paraplegia type 3A
|
| gptkbp:encodes |
atlastin-1 protein
|
| gptkbp:Entrez_Gene_ID |
89884
ENSG00000130332 |
| gptkbp:foundIn |
gptkb:Homo_sapiens
|
| gptkbp:function |
involved in endoplasmic reticulum network formation
|
| gptkbp:geneType |
protein-coding
|
| gptkbp:HGNC_ID |
HGNC:15912
|
| https://www.w3.org/2000/01/rdf-schema#label |
SPG3A gene
|
| gptkbp:inheritance |
autosomal dominant
|
| gptkbp:locatedOnChromosome |
chromosome 14q22.1
|
| gptkbp:mutationAssociatedWith |
early-onset hereditary spastic paraplegia
|
| gptkbp:OMIM |
606439
|
| gptkbp:UniProtID |
Q8WXF7
|
| gptkbp:bfsParent |
gptkb:hereditary_spastic_paraplegia
|
| gptkbp:bfsLayer |
6
|