ADGRA2
ADGRA2: A Multifaceted Gene Implicated in Ocular and Neurological Disorders
Description
ADGRA2 (adhesion G protein-coupled receptor A2) is a gene that encodes a protein known as GPR124. This protein is a member of the G protein-coupled receptor (GPCR) superfamily, which plays a crucial role in various cellular processes, including signal transduction and gene regulation.
The ADGRA2 gene is located on chromosome 16q22.1 and consists of 14 exons. It undergoes alternative splicing, resulting in the production of multiple protein isoforms with varying functions.
Associated Diseases
Mutations in the ADGRA2 gene have been linked to several ocular and neurological disorders, including:
- Ocular albinism type 1 (OA1): A rare genetic disorder characterized by a lack of pigmentation in the eyes, skin, and hair.
- X-linked retinitis pigmentosa (XLRP): A degenerative eye disease that leads to progressive loss of vision.
- Usher syndrome type 2 (USH2): A genetic condition involving hearing loss and vision impairment.
- Parkinson‘s disease: A neurodegenerative disorder that affects motor function and coordination.
- Autism spectrum disorder (ASD): A developmental condition characterized by social and communication difficulties.
Did you Know ?
Approximately 1 in 100,000 people worldwide are affected by OA1, which is caused by mutations in the ADGRA2 gene.
