HMBS
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Official Full Name
hydroxymethylbilane synthase
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Overview
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. Tetrapolymerization of the monopyrrole PBG into the hydroxymethylbilane pre-uroporphyrinogen in several discrete steps. -
Synonyms
HMBS; hydroxymethylbilane synthase; PBGD, PORC, porphobilinogen deaminase , porphyria, acute; Chester type , UPS, uroporphyrinogen I synthase; porphobilinogen deaminase; HEM3_HUMAN; PBG D; PBG-D; PBGD; Pre uroporphyrinogen synthase; Pre-uroporphyrinogen synthase; UPS; Uroporphyrinogen I synthase; Uroporphyrinogen I synthetase; OTTHUMP00000238530; OTTHUMP00000238532; OTTHUMP00000238533; OTTHUMP00000238534; OTTHUMP00000238537; OTTHUMP00000238539; OTTHUMP00000238540; OTTHUMP00000238541; OTTHUMP00000238580; PORC; EC 2.5.1.61;
- Recombinant Proteins
- Cell & Tissue Lysates
- Protein Pre-coupled Magnetic Beads
- Others
- Human
- Mouse
- Rhesus Macaque
- E.coli
- HEK293
- HEK293T
- In Vitro Cell Free System
- Mammalian Cell
- Mammalian cells
- Wheat Germ
- C
- His
- Flag
- GST
- His (Fc)
- Avi
- Myc
- DDK
- MYC
- N/A
- N
- Q&As
- Reviews
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