RMRP
Description
The RMRP gene, residing on chromosome 9, plays a pivotal role in the production of ribosomes, the cellular machinery responsible for protein synthesis. It encodes a small RNA molecule known as RMRP RNA, which acts as a guide for the cleavage of a precursor molecule, essential for the assembly of functional ribosomes. While primarily involved in ribosome biogenesis, RMRP RNA also exhibits diverse functions, including involvement in mitochondrial DNA replication and regulation of cell growth and apoptosis.
Associated Diseases
- Cartilage-Hair Hypoplasia
- Dyskeratosis congenita
- Diamond-Blackfan Anemia
- Myelodysplastic syndrome
- Leukemia
Did you know?
Mutations in the RMRP gene can lead to a rare genetic disorder called cartilage-hair hypoplasia, characterized by short stature, sparse hair, and skeletal abnormalities.
