PIGM
Description
The PIGM gene provides instructions for making an enzyme called porphobilinogen deaminase. This enzyme is crucial for the synthesis of heme, a molecule found in hemoglobin, which carries oxygen in red blood cells. Heme is also essential for the function of other proteins involved in various cellular processes. The PIGM gene plays a critical role in porphyrin metabolism by catalyzing the conversion of porphobilinogen to hydroxymethylbilane, an important step in the heme synthesis pathway.
Associated Diseases
Did you know?
Mutations in the PIGM gene can lead to a rare genetic disorder called acute intermittent porphyria (AIP), which can cause a buildup of porphyrin precursors in the body, leading to a range of symptoms, including abdominal pain, nausea, and neurological problems.
