PRPF4B

Ideogram human chromosome 6

PRPF4B

PRPF4B is a gene that encodes a protein involved in pre-mRNA splicing. This gene is located on chromosome 9 in humans. The PRPF4B protein plays a crucial role in the formation of the spliceosome, a complex molecular machine responsible for removing introns from pre-mRNA molecules.

Function

The PRPF4B protein is a component of the U4/U6-U5 tri-snRNP complex, which is essential for the splicing of pre-mRNA. It interacts with other spliceosome components to facilitate the splicing process and ensure the accurate removal of introns.

Clinical Significance

Mutations in the PRPF4B gene have been associated with certain genetic disorders, such as retinitis pigmentosa, a degenerative eye disease that can lead to vision loss. These mutations can disrupt the normal splicing process, affecting the production of functional proteins in cells.

Research

Research on PRPF4B continues to shed light on the mechanisms of pre-mRNA splicing and its role in human health and disease. Understanding the function of PRPF4B and its interactions with other spliceosome components is crucial for developing potential therapies for diseases associated with splicing defects.

See also

• Spliceosome
• Pre-mRNA splicing
• Retinitis pigmentosa