Tissue expression
Cell line expression
Protein structure
HMBS
Hydroxymethylbilane synthasePBGD, PORC, UPS
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]
Top validated antibodies |
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LSBio | ![]() |
Polyclonal |
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Invitrogen Antibodies | ![]() |
Polyclonal |
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Novus Biologicals | ![]() |
1 references | Polyclonal |
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Proteintech Group | ![]() |
Polyclonal |
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Atlas Antibodies | ![]() |
1 references | Polyclonal |
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