Statements (23)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:gene
|
| gptkbp:alternativeName |
porphobilinogen synthase
|
| gptkbp:associatedWith |
porphyria
|
| gptkbp:encodes |
aminolevulinate dehydratase (enzyme)
|
| gptkbp:Entrez_Gene_ID |
210
ENSG00000125654 |
| gptkbp:enzymeCommissionNumber |
4.2.1.24
|
| gptkbp:expressedIn |
liver
erythroid cells |
| gptkbp:fullName |
aminolevulinate dehydratase
|
| gptkbp:function |
catalyzes the second step in heme biosynthesis
|
| gptkbp:geneType |
protein-coding
|
| gptkbp:HGNC_ID |
405
|
| https://www.w3.org/2000/01/rdf-schema#label |
ALAD
|
| gptkbp:locatedOnChromosome |
gptkb:chromosome_9
|
| gptkbp:mutationAssociatedWith |
ALAD deficiency porphyria
|
| gptkbp:OMIM |
125270
|
| gptkbp:organism |
gptkb:Homo_sapiens
|
| gptkbp:orthologInMouse |
gptkb:Alad
|
| gptkbp:RefSeq |
NM_000031
|
| gptkbp:UniProtID |
P13716
|
| gptkbp:bfsParent |
gptkb:acute_hepatic_porphyria
|
| gptkbp:bfsLayer |
8
|