C9orf72 [SEP] found in taxon
C9orf72
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.
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
from the "C9ORF72" gene, containing expanded GGGGCC repeats, is translated through a non-ATG initiated mechanism. This drives the formation and accumulation of dipeptide repeat proteins corresponding multiple ribosomal reading frames on the mutation. The GGGGCC repeat expansion in C9orf72 is believed to compromise nucleocytoplasmic transport through several possible mechanisms.
Clinical significance.
The "C9ORF72" mutation is the first mutation found to be a link between familial FTD and ALS. Numerous published studies have confirmed the commonality of the "C9ORF72" repeat expansion in FTD and