RBM10
Description
RBMB10, also known as the Ring-Box 1 protein, is a critical gene involved in ribosome biogenesis, a fundamental cellular process. Ribosomes are the protein synthesis machinery of the cell, and their proper formation is crucial for cell growth and function. RBMB10 plays a key role in the assembly and maturation of ribosomes, ensuring their correct structure and functionality. Mutations in the RBMB10 gene can lead to disruptions in ribosome biogenesis, potentially contributing to various human diseases.
Associated Diseases
- Diamond-Blackfan Anemia (DBA): A rare congenital disorder characterized by red blood cell deficiency and bone marrow failure.
- Myelodysplastic Syndromes (MDS): A group of blood disorders where the bone marrow produces abnormal blood cells.
- Neurodevelopmental Disorders: Potential involvement in neurodevelopmental disorders due to its role in ribosome biogenesis, which is crucial for brain development.
- Cancer: Dysregulation of RBMB10 expression has been linked to various cancers, highlighting its potential role in tumorigenesis.
Did you know?
RBMB10 is a highly conserved gene across different species, indicating its vital role in cellular function.
