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General description
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. [provided by RefSeq, Jul 2008]
Immunogen
A synthesized peptide derived from human HMBS
Physical form
Buffer: PBS with 0.02% sodium azide,0.05% BSA,50% glycerol,pH7.3.
| biological source | rabbit |
| Quality Level | 100 |
| conjugate | unconjugated |
| antibody product type | primary antibodies |
| clone | monoclonal |
| form | liquid |
| species reactivity | human, rat, mouse |
| concentration | 0.34 mg/mL |
| technique(s) | western blot: 1:500-1:2000 |
| UniProt accession no. | P08397 |
| shipped in | wet ice |
| storage temp. | −20°C |
| target post-translational modification | unmodified |
| Gene Information | human ... HMBS(3145) |
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