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Overview
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Calculated MW: 39 kDa
Observed MW: Refer to figures
Gene Accession: BC000520Please contact us at for specific academic pricing.
Background
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.
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Overview