SNORD59B
The snord59b Gene: A Hidden Player in Human Health and Disease
Description
The snord59b gene, located on chromosome 19q13.42, plays a crucial role in human biology. It encodes a small nucleolar RNA (snoRNA) involved in the processing and modification of other RNA molecules. snoRNAs guide specific proteins to precise locations on RNA molecules, influencing their stability, translation, and function.
Associated Diseases
Mutations or alterations in the snord59b gene have been linked to several neurological disorders, including:
- Prader-Willi syndrome (PWS): A rare genetic disorder characterized by intellectual disability, obesity, short stature, and behavioral problems.
- Angelman syndrome (AS): A neurodevelopmental disorder characterized by intellectual disability, speech impairments, and ataxia.
- Mitochondrial myopathy (muscle weakness)
- Hypertrophic cardiomyopathy (enlarged heart muscle)
Did you Know ?
Approximately 1 in 25,000 individuals are affected by PWS, making it one of the most common genetic causes of intellectual disability.
