Aliases for HMBS Gene
External Ids for HMBS Gene
Previous HGNC Symbols for HMBS Gene
Previous GeneCards Identifiers for HMBS Gene
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]
GeneCards Summary for HMBS Gene
HMBS (Hydroxymethylbilane Synthase) is a Protein Coding gene. Diseases associated with HMBS include porphyria, acute intermittent and focal dermal hypoplasia. Among its related pathways are Metabolism and Porphyrin and chlorophyll metabolism. GO annotations related to this gene include hydroxymethylbilane synthase activity.
UniProtKB/Swiss-Prot for HMBS Gene
Tetrapolymerization of the monopyrrole PBG into the hydroxymethylbilane pre-uroporphyrinogen in several discrete steps.