Statements (23)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:gene
|
| gptkbp:alternativeName |
sarcomeric mitochondrial creatine kinase
|
| gptkbp:associatedWith |
mitochondrial creatine kinase deficiency
|
| gptkbp:encodes |
creatine kinase, mitochondrial 2
|
| gptkbp:Entrez_Gene_ID |
1158
ENSG00000115935 |
| gptkbp:expressedIn |
gptkb:skeletal_muscle
brain heart |
| gptkbp:function |
energy metabolism
ATP regeneration |
| gptkbp:HGNC_ID |
1982
|
| https://www.w3.org/2000/01/rdf-schema#label |
CKMT2 gene
|
| gptkbp:locatedOnChromosome |
gptkb:chromosome_5
5q13.3 |
| gptkbp:mutationAssociatedWith |
may be associated with cardiomyopathy
|
| gptkbp:OMIM |
123695
|
| gptkbp:organism |
gptkb:Homo_sapiens
|
| gptkbp:orthologInMouse |
Ckmt2
|
| gptkbp:product |
mitochondrial creatine kinase S-type
|
| gptkbp:UniProtID |
P17540
|
| gptkbp:bfsParent |
gptkb:Creatine_kinase
|
| gptkbp:bfsLayer |
7
|