HMBS Products

Description

HMBS 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.

Bioinformatics

Entrez	3145 Human
Uniprot	AAH00520 Human AAH00520.1 Human NM_000190 Human NP_000181.2 Human P08397 Human
Product By Gene ID	3145
Alternate Names	hydroxymethylbilane synthasePre-uroporphyrinogen synthase PBGDPBG-D PORC porphobilinogen deaminase porphyria, acute; Chester type UPSEC 2.5.1.61 uroporphyrinogen I synthase uroporphyrinogen I synthetase

Research Areas for HMBS

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Diabetes Research