HMBS
hydroxymethylbilane synthase
Synonyms:
PBG-D, PBGD, PORC, UPS
Species:
Human HMBS (3145), Mouse Hmbs (15288), Rat Hmbs (25709), naked mole-rat Hmbs (101700818), dog HMBS (489373), cow HMBS (515614), Goat HMBS (100861215), sheep HMBS (100528012), domestic cat HMBS (100127114), domestic guinea pig Hmbs (100720802) ...More
UniProtKB ID:
Gene ID:
- Human(3145) Summary: 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]
- Mouse(15288) hydroxymethylbilane synthase
- Rat(25709) hydroxymethylbilane synthase
- naked mole-rat(101700818) hydroxymethylbilane synthase
- dog(489373) hydroxymethylbilane synthase
- cow(515614) hydroxymethylbilane synthase
- Goat(100861215) hydroxymethylbilane synthase
- sheep(100528012) hydroxymethylbilane synthase
- domestic cat(100127114) hydroxymethylbilane synthase
- domestic guinea pig(100720802) hydroxymethylbilane synthase
- Domestic Rabbit(100341318) hydroxymethylbilane synthase
- chicken(419701) hydroxymethylbilane synthase
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