NCBI Description of HMBS
|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.|
Community Annotation of HMBS Add / Edit HMBS: Annotations
No community annotations yet for HMBS.
• "Mouse over" a mutation to see details.
Click on a tumor type to see its full list of significant genes.