RNIB

The RMRP (RNA component of mitochondrial RNA processing endoribonuclease) is a non-coding RNA gene that plays a crucial role in the processing of mitochondrial RNA. It is located on chromosome 9q34 and is involved in the cleavage of RNA molecules, which is essential for mitochondrial DNA replication and transcription.

Function

The RMRP gene encodes an RNA molecule that is a component of the mitochondrial RNA processing endoribonuclease complex. This complex is responsible for the cleavage of precursor RNA molecules, which is a critical step in the maturation of mitochondrial RNA. The RMRP RNA is also involved in the processing of ribosomal RNA and small nucleolar RNAs, indicating its role in the broader context of RNA metabolism.

Clinical Significance

Mutations in the RMRP gene are associated with a rare genetic disorder known as Cartilage-hair hypoplasia (CHH). CHH is characterized by short stature, fine and sparse hair, and immunodeficiency. The disorder is inherited in an autosomal recessive pattern, and individuals with CHH often have mutations that affect the structure and function of the RMRP RNA.

Research and Studies

Recent studies have focused on understanding the precise molecular mechanisms by which RMRP mutations lead to the clinical manifestations of CHH. Researchers are also investigating the potential role of RMRP in other diseases, including cancer, where dysregulation of RNA processing pathways is a common feature.

Also see

• Mitochondrial DNA
• RNA processing
• Non-coding RNA
• Cartilage-hair hypoplasia

References

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