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HMBS / PBGD
hydroxymethylbilane synthase
HMBS / PBGD is 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.
| Gene Name: | hydroxymethylbilane synthase |
| Synonyms: | HMBS, Hydroxymethylbilane synthase, PBG-D, PBGD, PORC, Porphyria, acute Chester type, Porphobilinogen deaminase, Pre-uroporphyrinogen synthase, UPS, Uroporphyrinogen I synthetase, Uroporphyrinogen I synthase |
| Target Sequences: | NM_000190 NP_000181.2 P08397 |
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