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]
| SKU | Test Kits | Buffer | Dye Color | Order Now |
|---|---|---|---|---|
| HMBS-20-RE | 20 (40 μL) | 200 μL |  |
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| HMBS-20-OR | 20 (40 μL) | 200 μL |  |
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| HMBS-20-GO | 20 (40 μL) | 200 μL |  |
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| HMBS-20-GR | 20 (40 μL) | 200 μL |  |
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| HMBS-20-AQ | 20 (40 μL) | 200 μL |  |
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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]
Gene Symbol : HMBS
Gene Name : Hydroxymethylbilane synthase
Chromosome : CHR 11: 119,084,870-119,093,548
Locus : 11q23.3
Alt. Genes : PREB
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