SNORD17
The Enigmatic snord17 Gene: Unraveling Its Role in Health and Disease
Description
The snord17 gene, located on chromosome 22q11.2, is a member of the small nucleolar RNA (snoRNA) family. SnoRNAs are essential for guiding the chemical modification of ribosomal RNA (rRNA), which is a critical component of the cellular machinery responsible for protein synthesis. The snord17 gene specifically targets the C/D box of the rRNA, modifying the cytosine nucleotide at position 1402 (C1402).
Associated Diseases
Mutations in the snord17 gene have been linked to a spectrum of genetic disorders, primarily affecting the skeletal system and metabolism. The most common of these disorders include:
- Olmsted syndrome: A rare genetic disorder characterized by severe bone fragility and muscle weakness.
- Pycnodysostosis: A skeletal dysplasia characterized by short stature, abnormal bone density, and facial abnormalities.
- Multiple epiphyseal dysplasia: A condition marked by abnormal development of the epiphyses (the ends of long bones).
- Craniosynostosis: Premature fusion of the skull bones.
- Metabolic syndrome: A cluster of metabolic abnormalities, including obesity, high blood pressure, and insulin resistance.
Did you Know ?
Mutations in the snord17 gene are estimated to occur in approximately 1 in 50,000 individuals worldwide.
