PRPF6
Spotlight on the PRPF6 Gene: Unraveling Its Importance in Health and Disease
Description
The PRPF6 gene (pre-mRNA processing factor 6) holds a pivotal role in the essential process of RNA splicing, which enables the production of diverse proteins from a single gene. It is located on chromosome 20q and consists of 11 exons that encode a 1,400-amino acid protein. This protein forms part of the spliceosome, a cellular machinery that precisely excises introns (non-coding regions) from pre-mRNA transcripts and joins the coding exons together.
Associated Diseases
Defects in the PRPF6 gene have been linked to several diseases, including:
- Retinitis Pigmentosa: A degenerative eye disorder characterized by progressive loss of vision in the peripheral retina, leading to night blindness and tunnel vision.
- Cone-Rod Dystrophy: A rare inherited condition that affects both the cones and rods in the retina, causing impaired vision.
- Myeloid Malignancies: Including acute myeloid leukemia and myelodysplastic syndrome, where PRPF6 mutations disrupt normal RNA splicing in blood cells.
- Neurodevelopmental Disorders: PRPF6 defects have been implicated in autism spectrum disorder and intellectual disability.
Striking Statistic
A staggering 1 in 4,000 individuals are affected by retinitis pigmentosa, making it one of the most prevalent inherited eye disorders worldwide. Mutations in the PRPF6 gene account for approximately 10% of retinitis pigmentosa cases.
