Statements (23)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:gene
|
| gptkbp:alternativeSplicing |
yes
|
| gptkbp:associatedWith |
gptkb:primary_hyperoxaluria_type_1
|
| gptkbp:encodes |
gptkb:alanine-glyoxylate_aminotransferase
|
| gptkbp:Entrez_Gene_ID |
gptkb:ENSG00000135423
189 |
| gptkbp:expressedIn |
liver
|
| gptkbp:fullName |
alanine-glyoxylate aminotransferase gene
|
| gptkbp:function |
catalyzes transamination of glyoxylate and alanine
|
| gptkbp:gene |
AGXT
|
| gptkbp:HGNC_ID |
333
|
| https://www.w3.org/2000/01/rdf-schema#label |
AGXT gene
|
| gptkbp:inheritance |
autosomal recessive
|
| gptkbp:length |
392 amino acids
|
| gptkbp:locatedOnChromosome |
chromosome 2
2q37.3 |
| gptkbp:mutationAssociatedWith |
can cause oxalate overproduction
|
| gptkbp:OMIM |
604285
|
| gptkbp:orthologInMouse |
Agxt
|
| gptkbp:RefSeq |
NM_000030
|
| gptkbp:UniProtID |
P21549
|
| gptkbp:bfsParent |
gptkb:primary_hyperoxaluria_type_1
|
| gptkbp:bfsLayer |
8
|