Statements (19)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:gene
|
| gptkbp:alternativeName |
Osteopetrosis-associated transmembrane protein 1
|
| gptkbp:associatedWith |
autosomal recessive osteopetrosis
|
| gptkbp:encodes |
OSTM1 protein
|
| gptkbp:Entrez_Gene_ID |
282996
ENSG00000112282 |
| gptkbp:expressedIn |
gptkb:osteoclasts
|
| gptkbp:fullName |
osteopetrosis associated transmembrane protein 1
|
| gptkbp:function |
involved in osteoclast maturation and function
|
| gptkbp:HGNC_ID |
gptkb:HGNC:24682
|
| https://www.w3.org/2000/01/rdf-schema#label |
OSTM1
|
| gptkbp:interactsWith |
CLCN7
|
| gptkbp:locatedOnChromosome |
gptkb:chromosome_6
|
| gptkbp:mutationAssociatedWith |
malignant infantile osteopetrosis
|
| gptkbp:OMIM |
607649
|
| gptkbp:orthologInMouse |
Ostm1
|
| gptkbp:UniProtID |
Q9NZ43
|
| gptkbp:bfsParent |
gptkb:VDR
|
| gptkbp:bfsLayer |
7
|