The HMBS gene provides instructions for making an enzyme known as hydroxymethylbilane synthase. This enzyme is involved in the production of a molecule called heme. Heme is vital for all of the body’s organs, although it is most abundant in the blood, bone marrow, and liver. Heme is an essential component of iron-containing proteins called hemoproteins, including hemoglobin (the protein that carries oxygen in the blood).
The production of heme is a multi-step process that requires eight different enzymes. Hydroxymethylbilane synthase is responsible for the third step in this process, which combines four molecules of porphobilinogen (the product of the second step) to form a compound called hydroxymethylbilane. In subsequent steps, five other enzymes produce and modify compounds that ultimately lead to heme.
Other Names
HEM3_HUMAN; Hydroxymethylbilane Synthetase; PBG-D; PBGD; Porphobilinogen Ammonia-Lyase; Porphobilinogen ammonia-lyase (polymerizing); Porphobilinogen Deaminase; Porphyrinogen Synthetase; Pre-uroporphyrinogen synthase; Preuroporphyrinogen Synthetase; UPS; Uroporphyrinogen synthase
Related Genetics Topics
Identifiers
- NCBI Gene: 3145
- OMIM: 609806
Source: MedlinePlus Genetics, U.S. National Library of Medicine.
