C17ORF49 Human

The C17orf49 gene is characterized by its open reading frame, which is a sequence of DNA that can be transcribed into mRNA and then translated into a protein. The protein encoded by C17orf49 contains a SANT domain, which is commonly found in proteins involved in chromatin remodeling . This domain is crucial for the protein’s function in regulating gene expression by modifying the structure of chromatin.

C17orf49 plays a significant role in chromatin organization, which is essential for the regulation of gene expression. It is a part of the MLL1/MLL and NURF complexes, which are involved in the modification of chromatin structure to either activate or repress gene transcription . The protein’s ability to bind to chromatin is vital for its function in these complexes.

The expression of C17orf49 is observed in various tissues, including lymphoid tissue, bone marrow, testis, and skeletal muscle . It is localized in the cytosol and nucleoplasm, indicating its involvement in intracellular processes related to chromatin organization and gene expression .

While the specific clinical implications of C17orf49 are still being studied, its role in chromatin organization suggests that it could be involved in various cellular processes and diseases related to gene expression dysregulation. Further research is needed to fully understand its potential impact on human health.

Human recombinant C17orf49 is used in research to study its function and role in chromatin organization. Recombinant proteins are produced through recombinant DNA technology, which involves inserting the gene encoding the protein into a host organism to produce the protein in large quantities. This allows researchers to study the protein’s structure, function, and interactions in detail .