SNORD59A
The snord59a Gene: A Comprehensive Guide
Description
The snord59a gene is located on chromosome 2 and encodes a small nucleolar RNA (snoRNA) molecule involved in the processing of ribosomal RNA (rRNA). snoRNAs play a crucial role in the maturation and modification of rRNAs, ensuring their functionality in the ribosome, the cellular machinery responsible for protein synthesis.
Associated Diseases
Mutations in the snord59a gene have been linked to several rare genetic disorders, including:
- Congenital Dyserythropoietic Anemia Type III (CDA III): A rare blood disorder characterized by ineffective erythropoiesis (red blood cell production), leading to anemia and other blood-related complications.
- Leukemia: A cancer of the blood and bone marrow that affects the production and function of blood cells.
- Lymphoma: A cancer of the lymphatic system, a network of tissues and organs that play a role in the body‘s immune response.
Did you Know ?
According to a 2021 study published in the journal "Nature Genetics," mutations in the snord59a gene account for approximately 1-4% of cases of congenital dyserythropoietic anemia type III. This highlights the relatively rare but significant impact of this gene on this specific disorder.
