Create a focused written report on a single human (homo sapiens) gene that has clinical relevance to a specific disease or physiological condition.

Approach: 1. Start with a literature search focusing on a specific disease of interest and identify a gene that is often implicated with the disease of interest. This gene will become the topic of your report. 2. Using the NCBI Gene and Gene Card databases, research the gene of interest. Include, the gene name, its genomic context (locus), size, structure (the numbers of exons, introns), gene function, activity, expression pattern and tissue type, catalytic activity (in case the gene encodes an enzyme), and other information that is unique to your gene choice. 3. Using the ClinVar site, determine some important sequence variations of the gene that may also have clinical implications, possibly causing the disease you are interested in. Clues may also be found in the pathways and bioSystems tab. 4. Using the Protein tool and some of the European protein databases (Uniprot, Ensamble), examine the protein 3D structure, and amino acid sequence, and identify evidence for differential functioning in variant proteins. 5. Examine the following additional NCBI tools for added information about the gene: GTR (genetic testing registry) MedGen (focus on diagnosis, therapy, clinical predictions or other aspects), and OMIM (Examine relevant clinical trials, molecular genetics, pathogenesis etc). 6. Determine the description of the variant and look at the associated PubMed link. Evaluation: will be based on your ability to write a focused report, to utilize the NCBI and other introduced database tools, and to synthesize the information. The report should provide a well-rounded review of the gene identity, and the gene special features that are specifically associated with its implication in disease. Format: The report will be accepted as an assignment in Canvas by the due date. The final reports should be a word document, 1-2 pages in length, single space, font size 11.