C17orf75
C17orf75 is a protein-coding gene located on chromosome 17 in humans. The gene is also known by its full name, "Chromosome 17 open reading frame 75." The specific function of the C17orf75 protein is not well understood, but it is believed to play a role in various cellular processes.
Gene Location and Structure
C17orf75 is situated on the long arm (q arm) of chromosome 17 at position 25.3. The gene spans approximately 10,000 base pairs and consists of multiple exons and introns. The exact number of exons and the detailed structure of the gene can vary between different transcript variants.
Protein Function
The protein encoded by C17orf75 is predicted to be involved in several cellular pathways, although its precise biological role remains to be fully elucidated. Studies suggest that it may interact with other proteins and participate in signal transduction pathways. Further research is needed to determine its specific functions and interactions.
Expression
C17orf75 is expressed in various tissues throughout the body, with higher expression levels observed in certain tissues such as the brain, liver, and kidney. The expression pattern suggests that the protein may have tissue-specific roles.
Clinical Significance
Mutations or alterations in the C17orf75 gene have been investigated for potential links to various diseases, including certain types of cancer. However, more research is required to establish any definitive associations and to understand the clinical implications of these findings.
Research and Studies
Ongoing research aims to uncover the detailed functions of the C17orf75 protein and its role in human health and disease. Studies often utilize techniques such as gene knockout, RNA interference, and protein-protein interaction assays to explore the gene's function.
See Also
References
External Links
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Contributors: Prab R. Tumpati, MD