Statements (24)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:gene
|
| gptkbp:alsoKnownAs |
porphobilinogen deaminase
|
| gptkbp:associatedWith |
gptkb:acute_intermittent_porphyria
|
| gptkbp:encodes |
hydroxymethylbilane synthase
|
| gptkbp:Entrez_Gene_ID |
3145
ENSG00000110628 |
| gptkbp:expressedIn |
liver
erythrocytes |
| gptkbp:foundIn |
gptkb:Homo_sapiens
|
| gptkbp:fullName |
hydroxymethylbilane synthase
|
| gptkbp:function |
catalyzes the conversion of porphobilinogen to hydroxymethylbilane
|
| gptkbp:geneType |
protein-coding
|
| gptkbp:HGNC_ID |
HGNC:5007
|
| https://www.w3.org/2000/01/rdf-schema#label |
HMBS
|
| gptkbp:involves |
heme biosynthesis
|
| gptkbp:locatedOnChromosome |
chromosome 11
|
| gptkbp:mutationAssociatedWith |
gptkb:acute_intermittent_porphyria
|
| gptkbp:numberOfExons |
15
|
| gptkbp:OMIM |
609806
|
| gptkbp:orthologInMouse |
Hmbs
|
| gptkbp:UniProtID |
P08397
|
| gptkbp:bfsParent |
gptkb:ORPHA:110
gptkb:ORPHA:282 |
| gptkbp:bfsLayer |
7
|