Porphobilinogen deaminase (hydroxymethylbilane synthase, or uroporphyrinogen I synthase) is an enzyme that in humans is encoded by the HMBS gene. This gene encodes a member of the hydroxymethylbilane synthase superfamily. The encoded protein is the third enzyme of the heme biosynthetic pathway and catalyzes the head to tail condensation of four porphobilinogen molecules into the linear hydroxymethylbilane. Mutations in this gene are associated with the autosomal dominant disease acute intermittent porphyria. Alternatively spliced transcript variants encoding different isoforms have been described.
Formulation
0.5mg/ml if reconstituted with 0.2ml sterile DI water
Host
Rabbit
Immunogen Region
A human partial recombinant protein corresponding to amino acids N6-H361 was used as the immunogen for the HMBS antibody.
Isotype
IgG
Predicted Reactivity
Human
Reactivity
Human
Recombinant
No
Uniprot
P08397
Buffer
Lyophilized from 1X PBS with 2% Trehalose and 0.025% sodium azide
Format
Antigen affinity purified
Purification
Antigen affinity purified
Storage
After reconstitution, the HMBS antibody can be stored for up to one month at 4°C. For long-term, aliquot and store at -20°C. Avoid repeated freezing and thawing.
Applications
WB, ELISA
Dilution
Western blot: 0.5-1ug/ml,Direct ELISA: 0.1-0.5ug/ml (recombinant human protein) (BSA-free format available)