Statements (60)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:gene
|
| gptkbp:alternativeName |
gptkb:MNK
Menkes syndrome protein copper-transporting ATPase 1 |
| gptkbp:associatedWith |
gptkb:Menkes_disease
Occipital horn syndrome |
| gptkbp:clinicalTrialPhase |
genetic testing for Menkes disease
|
| gptkbp:discoveredBy |
researchers studying Menkes disease
|
| gptkbp:encodes |
ATPase copper transporting alpha polypeptide
|
| gptkbp:Entrez_Gene_ID |
538
|
| gptkbp:expressedIn |
gptkb:cancer
gptkb:skin gptkb:skeletal_muscle gptkb:kidney gptkb:placenta brain development heart blood vessels fibroblasts intestine many tissues except liver |
| gptkbp:function |
copper homeostasis
copper transport |
| gptkbp:geneType |
protein-coding
|
| gptkbp:HGNC_ID |
gptkb:HGNC:874
|
| https://www.w3.org/2000/01/rdf-schema#label |
ATP7A gene
|
| gptkbp:inheritance |
X-linked recessive
|
| gptkbp:involvedIn |
cellular copper ion homeostasis
copper ion transmembrane transport |
| gptkbp:locatedIn |
Xq21.1
|
| gptkbp:locatedOnChromosome |
gptkb:X_chromosome
|
| gptkbp:mutationAssociatedWith |
gptkb:bone
nonsense hypotonia intellectual disability deletion insertion missense seizures failure to thrive premature death splicing bladder diverticula neurological degeneration connective tissue abnormalities impaired copper absorption kinky hair vascular tortuosity |
| gptkbp:OMIM |
300011
|
| gptkbp:orthologInDrosophila |
Drosophila ATP7
|
| gptkbp:orthologInMouse |
Atp7a
|
| gptkbp:orthologInYeast |
CCC2
|
| gptkbp:product |
ATP7A protein
|
| gptkbp:proteinFamily |
P-type ATPase family
|
| gptkbp:regulates |
copper levels in cells
|
| gptkbp:transportation |
copper ions
|
| gptkbp:UniProtID |
Q04656
|
| gptkbp:bfsParent |
gptkb:Menkes_disease
|
| gptkbp:bfsLayer |
8
|