Statements (58)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
enzyme
|
| gptkbp:acidity |
affected by pH
rare genetic disorder |
| gptkbp:activities |
measured in blood
|
| gptkbp:associated_with |
neurological symptoms
HMBS gene mutations |
| gptkbp:associatedWith |
gptkb:acute_intermittent_porphyria
anxiety depression nausea vomiting confusion seizures muscle weakness insomnia constipation hallucinations |
| gptkbp:calories |
Michaelis-Menten_kinetics
|
| gptkbp:chemicalFormula |
porphyrin synthesis pathway
|
| gptkbp:classification |
EC 4.3.1.8
|
| gptkbp:clinicalTrials |
acute attacks
diagnostic marker for porphyrias avoidance of triggering factors enzyme activity assay for new treatments |
| gptkbp:constructionMaterial |
porphobilinogen
|
| gptkbp:diseaseResistance |
caused by mutations in HMBS gene
|
| gptkbp:environmentalProtection |
heme synthesis regulation
|
| gptkbp:family |
deaminases
|
| gptkbp:formFactor |
zinc
|
| gptkbp:function |
removal of amino group
|
| gptkbp:geneticDiversity |
HMBS
increased porphobilinogen levels |
| gptkbp:hasAccreditation |
leads to porphyria
|
| https://www.w3.org/2000/01/rdf-schema#label |
porphobilinogen deaminase
|
| gptkbp:impact |
hemin administration
|
| gptkbp:internationalClassification |
deamination
|
| gptkbp:involvedIn |
heme biosynthesis
|
| gptkbp:is_a_route_for |
porphyrin metabolism
|
| gptkbp:is_a_source_of |
human tissues
|
| gptkbp:is_evaluated_by |
spectrophotometric method
|
| gptkbp:isActiveIn |
heavy metals
|
| gptkbp:locatedIn |
human liver
|
| gptkbp:location |
mitochondria
|
| gptkbp:previouslyKnownAs |
gptkb:hydroxymethylbilane_synthase
|
| gptkbp:products |
gptkb:hydroxymethylbilane
|
| gptkbp:regulates |
feedback inhibition
|
| gptkbp:regulatoryBody |
predominantly in liver
|
| gptkbp:releaseYear |
first described in 1960s
|
| gptkbp:research |
for porphyria diagnosis
|
| gptkbp:research_focus |
gene therapy
|
| gptkbp:structureType |
tetrameric
|
| gptkbp:symptoms |
abdominal pain
skin sensitivity psychological disturbances urinary changes |
| gptkbp:technique |
urine porphyrin test
|
| gptkbp:was_a_catalyst_for |
the_conversion_of_porphobilinogen_to_hydroxymethylbilane
|