ADGRB1
The Intriguing World of ADGRB1: A Gene Linked to Eye Development and Disease
Description
ADGRB1, also known as adhesion G protein-coupled receptor B1, is a gene that encodes a protein of the same name. This protein is a member of the G protein-coupled receptor (GPCR) superfamily, which is involved in a wide range of cellular processes. ADGRB1 is primarily expressed in the retina and is essential for the development and function of photoreceptors, the cells responsible for converting light into electrical signals.
Associated Diseases
Mutations in the ADGRB1 gene have been linked to several inherited retinal diseases, including:
- Macular dystrophy: This condition affects the macula, the central region of the retina responsible for sharp vision. ADGRB1 mutations can lead to juvenile macular dystrophy, which manifests in early vision loss and impaired central vision.
- Retinitis pigmentosa: A group of disorders characterized by progressive degeneration of the retina, leading to night blindness and peripheral vision loss. ADGRB1 mutations are associated with autosomal dominant retinitis pigmentosa.
- Cone-rod dystrophy: This rare disorder affects both cone and rod photoreceptors, leading to impaired vision in all lighting conditions. ADGRB1 mutations are associated with an autosomal recessive form of cone-rod dystrophy.
Did you Know ?
Approximately 1 in 10,000 people worldwide are affected by an inherited retinal disease caused by mutations in ADGRB1 or other genes in the same pathway.
