RPSAP58
Unveiling the RPSAP58 Gene: A Comprehensive Guide
Description
The RPSAP58 gene, located on chromosome 17, encodes a protein called Ribosomal Protein SA Phosphoprotein 58. This protein plays a crucial role in the biogenesis of ribosomes, the cellular machinery responsible for protein synthesis. RPSAP58 assists in the assembly of the 40S ribosomal subunit, facilitating the maturation and functionality of ribosomes.
Associated Diseases
Mutations or alterations in the RPSAP58 gene have been associated with several genetic disorders, including:
- Diamond-Blackfan Anemia (DBA): DBA is a rare blood disorder characterized by low red blood cell counts (anemia). Mutations in RPSAP58 and other ribosomal protein genes account for about 25% of DBA cases.
- 5q- Syndrome: This rare chromosomal disorder arises from a deletion of the long arm of chromosome 5. RPSAP58 is located within this deleted region, and its loss can contribute to the developmental and physical abnormalities associated with 5q- Syndrome.
- Congenital Heart Defects: Certain RPSAP58 mutations have been linked to an increased risk of congenital heart defects, such as atrial septal defects and ventricular septal defects.
Did you Know ?
Approximately 1 in 100,000 individuals is affected by Diamond-Blackfan Anemia, highlighting the rarity of the disorder. Mutations in RPSAP58 are the most common genetic cause of DBA, accounting for a significant proportion of cases.
