SNRNP200

SNRNP200, also known as PRPF6, is a protein-coding gene found in humans. This gene provides instructions for making a protein that is a component of spliceosomes, which are molecular machines responsible for RNA splicing. RNA splicing is a critical process that removes non-coding sequences (introns) from a precursor messenger RNA (pre-mRNA) molecule and joins the coding sequences (exons) together to form mature messenger RNA (mRNA). This mature mRNA is then used as a template for protein synthesis.

The protein encoded by SNRNP200 is thought to play a role in the assembly and function of spliceosomes. It is believed to interact with other spliceosomal components and may be involved in regulating the splicing process. Dysfunctional RNA splicing can lead to the production of abnormal proteins, which can have various detrimental effects on cellular function and organismal health.

Mutations in the SNRNP200 gene have been associated with certain human diseases. For instance, alterations in this gene have been linked to retinitis pigmentosa, a group of inherited eye disorders that affect the retina and can lead to vision loss. Research into the specific functions of SNRNP200 and its involvement in disease pathogenesis is ongoing, aiming to better understand its role in cellular processes and identify potential therapeutic targets.