PRPF6
PRPF6
PRPF6 is a gene that encodes a protein involved in pre-mRNA splicing. This gene is located on chromosome 20 in humans. The protein encoded by PRPF6 plays a crucial role in the formation of the spliceosome, a complex molecular machine responsible for removing introns from pre-mRNA molecules.
Function[edit | edit source]
The PRPF6 protein is a component of the U5 small nuclear ribonucleoprotein (snRNP) complex, which is essential for the splicing of pre-mRNA. It interacts with other spliceosome components to facilitate the removal of introns and the joining of exons to produce mature mRNA transcripts.
Clinical significance[edit | edit source]
Mutations in the PRPF6 gene have been associated with retinitis pigmentosa, a genetic disorder that causes progressive vision loss. Research has shown that defects in pre-mRNA splicing due to PRPF6 mutations can lead to the degeneration of retinal cells and ultimately vision impairment.
Interactions[edit | edit source]
The PRPF6 protein interacts with several other proteins involved in pre-mRNA splicing, such as PRPF8 and PRPF31. These interactions are crucial for the proper assembly and function of the spliceosome complex.
References[edit | edit source]
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