ORAOV1
Title: ORAOV1: A Vital Gene Linked to Eye Health and Neurological Development
Description:
ORAOV1 (Oral Cancer Overexpressed 1) is a gene located on chromosome 5q13.1. It encodes a protein that plays a crucial role in several biological processes, including eye development, cell adhesion, and neuronal function. Mutations in the ORAOV1 gene have been associated with various eye and neurological diseases, shedding light on its importance in human health.
Associated Diseases:
- Autosomal Dominant Optic Atrophy (ADOA): Mutations in ORAOV1 are the most common cause of ADOA, a genetic condition characterized by progressive loss of vision due to damage to the optic nerve.
- Microphthalmia with Coloboma (MCOL): ORAOV1 mutations can also lead to MCOL, a condition in which the eye is abnormally small and has a cleft or opening in the iris or retina.
- Congenital Cataracts: ORAOV1 mutations can disrupt the formation of the eye's lens, resulting in congenital cataracts, which cloud the lens and impair vision.
- Neurological Disorders: ORAOV1 has been implicated in the development of neurological disorders such as autism spectrum disorder (ASD) and schizophrenia.
Did you Know ?
Studies have shown that ORAOV1 mutations account for approximately 5-10% of all cases of ADOA, making it the leading genetic cause of this condition.
