RLTPR
The rltpr Gene: Unraveling Its Intricate Role in Health and Disease
Description
The rltpr gene, also known as the relaxin and L-type calcium channel receptor gene, plays a crucial role in the regulation of vascular tone and the development of the cardiovascular system. It encodes a receptor protein, known as the relaxin/insulin-like family peptide receptor, which binds to two hormones, relaxin and insulin-like family peptide 3 (INSL3). These hormones have potent vasodilating effects, meaning they can relax blood vessels and reduce blood pressure.
Associated Diseases
Mutations in the rltpr gene have been linked to several cardiovascular disorders, including:
- Familial primary pulmonary hypertension: A rare genetic condition that causes high blood pressure in the arteries of the lungs, leading to heart failure and respiratory problems.
- Ectopia cordis (heart outside the chest): A birth defect where the heart is located outside the chest, due to impaired migration of the heart during fetal development.
- Congenital heart defects: Abnormalities in the heart's structure or function present at birth, such as atrial septal defects (holes in the heart's walls).
Did you Know ?
Approximately 1 in 50,000 people worldwide are affected by familial primary pulmonary hypertension, with mutations in the rltpr gene accounting for around 70% of cases.
