HAL : histidine ammonia-lyase

Unlocking the Role of the HAL Gene: The Key to Histidine Metabolism and Skin Protection

Description:

The human gene, aptly named HAL, holds the blueprint for an enzyme called histidase. This remarkable enzyme plays a critical role in the breakdown of histidine, an essential amino acid found in most proteins. Histidase breaks down histidine into urocanic acid, which, in turn, is involved in various metabolic pathways in the liver and skin.

Associated Diseases:

Defects in the HAL gene can lead to histidinemia, a rare condition where the body is unable to properly metabolize histidine. This can result in a buildup of histidine and urocanic acid in the blood, potentially causing developmental delays, neurological symptoms, and skin problems.

Did you Know ?

Histidine is present in nearly every protein in the human body, making its breakdown and regulation through the HAL gene crucial for overall health.