Statements (23)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:gene
|
| gptkbp:associatedWith |
ornithine transcarbamylase deficiency
|
| gptkbp:encodes |
gptkb:ornithine_transcarbamylase
|
| gptkbp:Entrez_Gene_ID |
ENSG00000122824
5009 |
| gptkbp:enzymeCommissionNumber |
2.1.3.3
|
| gptkbp:expressedIn |
gptkb:small_intestine
liver |
| gptkbp:fullName |
ornithine transcarbamylase gene
|
| gptkbp:function |
gptkb:urea_cycle
|
| gptkbp:HGNC_ID |
8517
|
| https://www.w3.org/2000/01/rdf-schema#label |
OTC gene
|
| gptkbp:inheritance |
X-linked recessive
|
| gptkbp:locatedOnChromosome |
gptkb:Xp21.1
gptkb:X_chromosome |
| gptkbp:mutationAssociatedWith |
hyperammonemia
|
| gptkbp:OMIM |
300461
|
| gptkbp:orthologInMouse |
Otc
|
| gptkbp:product |
OTC protein
|
| gptkbp:RefSeq |
NM_000531
|
| gptkbp:UniProtID |
P00480
|
| gptkbp:bfsParent |
gptkb:ornithine_transcarbamylase
|
| gptkbp:bfsLayer |
6
|