DHX37
DHX37: An Essential Gene with Intriguing Roles in Development and Disease
Description
DHX37 is a gene that encodes a protein called an RNA helicase, which plays a crucial role in the processing and regulation of RNA molecules within cells. RNA helicases function by unwinding RNA strands, allowing access to other proteins and facilitating various cellular processes, including transcription, splicing, and translation.
Associated Diseases
Mutations in the DHX37 gene have been linked to several human diseases, including:
- Rett syndrome: A neurodevelopmental disorder primarily affecting females, characterized by intellectual disability, repetitive behaviors, and difficulty with motor coordination.
- CHARGE syndrome: A complex genetic condition that affects multiple organ systems, including the heart, eyes, and ears.
- Intellectual disability: A wide range of cognitive impairments that can affect learning, reasoning, and problem-solving abilities.
- Autism spectrum disorder: A neurodevelopmental condition characterized by social difficulties, repetitive behaviors, and restricted interests.
- Schizophrenia: A severe mental illness characterized by hallucinations, delusions, and disorganized thinking.
Did you Know ?
According to a recent study, mutations in the DHX37 gene are estimated to affect approximately 1 in 2,000 newborns. This relatively high prevalence highlights the importance of understanding the role of DHX37 in human health.
