Statements (21)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:gene
|
| gptkbp:associatedWith |
gptkb:osteopetrosis
|
| gptkbp:encodes |
Pleckstrin homology domain-containing family M member 1
|
| gptkbp:Entrez_Gene_ID |
gptkb:ENSG00000141552
51177 |
| gptkbp:expressedIn |
bone tissue
|
| gptkbp:function |
autophagy
regulation of lysosomal positioning |
| https://www.w3.org/2000/01/rdf-schema#label |
PLEKHM1
|
| gptkbp:interactsWith |
gptkb:Rab7
gptkb:LC3 |
| gptkbp:locatedOnChromosome |
17q21.31
|
| gptkbp:mutationAssociatedWith |
autosomal recessive osteopetrosis
|
| gptkbp:OMIM |
611466
|
| gptkbp:organism |
gptkb:Homo_sapiens
|
| gptkbp:UniProtID |
Q9NQV6
|
| gptkbp:bfsParent |
gptkb:chromosome_17q21
gptkb:17q21.31_(human) gptkb:17q21.33 gptkb:chromosome_17q21.2 |
| gptkbp:bfsLayer |
8
|