KAL1
The KAL1 Gene: Unraveling its Role in Health and Disease
Description
The KAL1 gene, also known as kallikrein 1, is an essential gene located on human chromosome 19. It encodes a protein called tissue kallikrein, a serine protease enzyme that plays a crucial role in various physiological processes. Tissue kallikrein is involved in the body's immune response, inflammation, blood clotting, and blood pressure regulation.
Associated Diseases
Mutations or alterations in the KAL1 gene have been linked to several diseases, including:
- Hereditary Angioedema (HAE): HAE is a rare genetic disorder characterized by frequent and severe episodes of swelling in the face, limbs, abdomen, and throat. Mutations in the KAL1 gene lead to a deficiency or dysfunction of tissue kallikrein, impairing the body's ability to control inflammation.
- Allergies: Tissue kallikrein has been implicated in the development and severity of allergic reactions. Research suggests that increased levels of tissue kallikrein can promote airway inflammation and contribute to allergic asthma and rhinitis.
- Cardiovascular Diseases: Tissue kallikrein plays a role in regulating blood pressure and blood clotting. Dysregulation of tissue kallikrein activity has been linked to an increased risk of hypertension, heart attack, and stroke.
Did you Know ?
Approximately 1 in 50,000 people are estimated to have HAE due to KAL1 gene mutations, highlighting the rarity of this disorder.
