RDX
Description
The RDX gene, located on chromosome 11q23.3, encodes for the RDX protein, a member of the DEAD-box helicase family. These helicases play crucial roles in various cellular processes, including RNA metabolism, DNA repair, and ribosome biogenesis. The RDX protein specifically functions as a helicase that unwinds double-stranded RNA, contributing to RNA splicing and the regulation of gene expression. Mutations in the RDX gene have been linked to several genetic disorders, highlighting its importance in maintaining cellular function and overall health.
Associated Diseases
- Retinitis pigmentosa (RP): An inherited eye disease leading to progressive vision loss.
- Deafness: Hearing loss caused by dysfunction in the auditory system.
- Intellectual disability: Cognitive impairment affecting learning, reasoning, and problem-solving abilities.
- Cerebral palsy: A disorder affecting muscle movement and coordination.
Did you know?
The RDX gene name originates from the Latin word 'radix,' meaning 'root,' reflecting its potential role in fundamental cellular processes.
