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C9orf72 (chromosome 9 open reading frame 72) is a protein which in humans is encoded by the gene ''C9orf72''. The human ''C9orf72'' gene is located on the short (p) arm of chromosome 9 open reading frame 72, from base pair 27,546,542 to base pair 27,573,863. Its cytogenetic location is at 9p21.2.〔[http://www.ncbi.nlm.nih.gov/gene?linkname=protein_gene&from_uid=365906244 C9orf72 chromosome 9 open reading frame 72 [Homo sapiens] - Gene - NCBI]〕 The protein is found in many regions of the brain, in the cytoplasm of neurons as well as in presynaptic terminals. Disease causing mutations in the gene were first discovered by two independent research teams, led by Rosa Rademakers of Mayo Clinic and Bryan Traynor of the National Institutes of Health, and were first reported in October 2011. The mutations in ''C9orf72'' are significant because it is the first pathogenic mechanism identified to be a genetic link between familial frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS). As of 2012, it is the most common mutation identified that is associated with familial FTD and/or ALS. ==Gene location== Cytogenetic Location: 9p21.2 Molecular Location on chromosome 9: base pairs 27,546,542 to 27,573,863 The C9orf72 gene is located on the short (p) arm of chromosome 9 at position 21.2. More precisely, the C9orf72 gene is located from base pair 27,546,542 to base pair 27,573,863 on chromosome 9.〔(【引用サイトリンク】url=https://learn.usf.edu/webapps/portal/frameset.jsp?tabGroup=courses&url=%2Fwebapps%2Fblackboard%2Fcontent%2FcontentWrapper.jsp%3Fcontent_id%3D_7676626_1%26displayName%3DLinked%2BFile%26course_id%3D_261953_1%26navItem%3Dcontent%26attachment%3Dtrue%26href%3Dhttp%253A%252F%252Fwww.sciencebuddies.org%252Fscience-fair-projects%252Fproject_ideas%252FBioMed_p007.shtml )〕 抄文引用元・出典: フリー百科事典『 ウィキペディア（Wikipedia）』 ■ウィキペディアで「C9orf72」の詳細全文を読む スポンサード リンク
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