Statements (23)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:gene
|
| gptkbp:alternativeSplicing |
yes
|
| gptkbp:associatedWith |
gptkb:gyrate_atrophy_of_choroid_and_retina
|
| gptkbp:cofactor |
gptkb:pyridoxal_phosphate
|
| gptkbp:encodes |
gptkb:ornithine_aminotransferase
|
| gptkbp:Entrez_Gene_ID |
4942
ENSG00000116793 |
| gptkbp:expressedIn |
retina
liver |
| gptkbp:fullName |
ornithine aminotransferase gene
|
| gptkbp:function |
catalyzes conversion of ornithine to glutamate semialdehyde
|
| gptkbp:HGNC_ID |
8127
|
| https://www.w3.org/2000/01/rdf-schema#label |
OAT gene
|
| gptkbp:inheritance |
autosomal recessive
|
| gptkbp:length |
439 amino acids
|
| gptkbp:locatedOnChromosome |
gptkb:10q26
|
| gptkbp:mutationAssociatedWith |
causes hyperornithinemia
|
| gptkbp:OMIM |
258870
|
| gptkbp:organism |
gptkb:Homo_sapiens
|
| gptkbp:proteinFamily |
aminotransferase family
|
| gptkbp:UniProtID |
P04181
|
| gptkbp:bfsParent |
gptkb:Ornithine_Aminotransferase
|
| gptkbp:bfsLayer |
7
|