IPW
Description
The IPW Gene: A Major Player in Human Development and Disease
The IPW (interphotoreceptor retinoid-binding protein with chaperone) gene is a crucial gene involved in various physiological processes, particularly in the development and maintenance of the human visual system. It encodes a protein called interphotoreceptor retinoid-binding protein (IRBP), which plays a pivotal role in the visual cycle, where it binds to and transports retinoids, essential molecules for vision.
Associated Diseases
Mutations in the IPW gene have been linked to several inherited retinal diseases, including:
- Retinitis Pigmentosa (RP): A group of genetic disorders that affect the retina, leading to progressive vision loss and potential blindness.
- Leber‘s Congenital Amaurosis (LCA): A rare genetic condition that causes severe visual impairment or blindness from birth.
- Macular Dystrophy: A disease that affects the macula, the central part of the retina responsible for central vision.
Did you Know ?
Approximately 1 in 4,000 individuals worldwide are affected by retinitis pigmentosa, a condition often associated with mutations in the IPW gene.
