C9orf72 is a protein which in humans is encoded by the gene C9orf72.
C9orf72 gene located on the short arm of chromosome 9 P open reading frame 72, from base pair to base pair 27.546.542 27.573.863. Its cytogenetic location 9p21.2.
Protein is found in many regions of the brain in the cytoplasm of neurons and in presynaptic terminals. Disease-causing gene mutations were first discovered by two independent research groups, led by Rosa Rademakers of Mayo Clinic and Bryan Traynor of the National institutes of health, and was first published in October 2011. Mutations in C9orf72 is significant because it is the first pathogenic mechanism identified a genetic link between family FTD, frontotemporal dementia and amyotrophic lateral sclerosis als. This is the most common identified mutation associated with familial FTD and / or ALS.