HIBCH
Description
The HIBCH gene provides instructions for making the enzyme histidase. This enzyme is essential for the breakdown of the amino acid histidine, which is found in protein-rich foods. Histidase helps convert histidine into a compound called formiminoglutamate (FIGLU). This process is crucial for maintaining normal levels of histidine and other related metabolites in the body. Mutations in the HIBCH gene can lead to a rare genetic disorder known as histidinemia, characterized by an inability to break down histidine effectively. Understanding the role of HIBCH and its associated disorders is essential for personalized medical care and disease management.
Associated Diseases
Did you know?
Histidine is an important amino acid that plays a role in various bodily functions, including immune response, nerve signal transmission, and the production of red blood cells.
