HMBS : hydroxymethylbilane synthase

Description

The HMBS gene provides instructions for making the enzyme hydroxymethylbilane synthase, a vital component in the heme biosynthesis pathway. Heme is a molecule essential for carrying oxygen in red blood cells, and its deficiency can lead to various health issues. The HMBS gene is located on chromosome 11 and consists of 11 exons. Mutations in this gene can disrupt the production of hydroxymethylbilane synthase, leading to the accumulation of porphyrin precursors in the body, causing a variety of symptoms.

Associated Diseases

• Acute Intermittent Porphyria (AIP)
• Porphyria Cutanea Tarda (PCT)
• Hereditary Coproporphyria (HC)
• Variegate Porphyria (VP)

Did you know?

Mutations in the HMBS gene are responsible for the rare genetic disorder, porphyria, which was once believed to be the cause of the vampire myth.