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 27,546,546 to base pair 27,573,866 (GRCh38). Its cytogenetic location is at 9p21.2.[5]
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.[6][7] 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). It is the most common mutation identified that is associated with familial FTD and/or ALS in Caucasians.[8]
^ abcGRCh38: Ensembl release 89: ENSG00000147894 – Ensembl, May 2017
^ abcGRCm38: Ensembl release 89: ENSMUSG00000028300 – Ensembl, May 2017
^"Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^"Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^DeJesus-Hernandez M, Mackenzie IR, Boeve BF, Boxer AL, Baker M, Rutherford NJ, et al. (October 2011). "Expanded GGGGCC hexanucleotide repeat in noncoding region of C9ORF72 causes chromosome 9p-linked FTD and ALS". Neuron. 72 (2): 245–56. doi:10.1016/j.neuron.2011.09.011. PMC 3202986. PMID 21944778.
^Renton AE, Majounie E, Waite A, Simón-Sánchez J, Rollinson S, Gibbs JR, et al. (October 2011). "A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD". Neuron. 72 (2): 257–68. doi:10.1016/j.neuron.2011.09.010. PMC 3200438. PMID 21944779.
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...
gene in Europe is C9orf72, followed by SOD1, TARDBP, and FUS, while the most common ALS gene in Asia is SOD1, followed by FUS, C9orf72, and TARDBP. ALS...
tau proteins and TAR DNA-binding protein 43 (TDP-43). Mutations in the C9orf72 gene have been established as a major genetic contribution of FTLD, although...
of 2019[update]) was a hexanucleotide repeat expansion in intron 1 of C9ORF72. Only one or two cases have been reported describing TARDBP (the TDP-43...
meaning that mutations in two or more genes are required to cause disease. C9orf72 is the most common gene associated with ALS, causing 40% of familial cases...
Nanda J, et al. (February 2021). "Mitochondrial bioenergetic deficits in C9orf72 amyotrophic lateral sclerosis motor neurons cause dysfunctional axonal...
dependent on the age. A specific hexanucleotide repeat expansion within the C9orf72 gene said to be a major cause for developing amyotrophic lateral sclerosis...
Engelborghs, Sebastiaan; van der Zee, Julie; Van Broeckhoven, Christine (1993). "C9orf72-Related Amyotrophic Lateral Sclerosis and Frontotemporal Dementia". In...
implicated in some cases of the disease, and a mutation in chromosome 9 (C9orf72) is thought to be the most common known cause of sporadic ALS. Early diagnosis...
expanded repeat of the hexanucleotide GGGGCC at the chromosomal locus C9ORF72. The C9ORF72 hexanucleotide repeat expansion (HRE) is capable of binding Pur-alpha...
ALS, and one example is the expressing of C9orf72 mutation that can be introduced in mouse using the BAC C9orf72 gene with the multiple repeats of GGGGCC...
translation of expanded hexanucleotide repeats present in an intron of the C9orf72 gene. The expansion of the hexanucleotide repeats and thus accumulation...
mechanisms involving hybrid RNA:DNA intermediates have been proposed. C9orf72 RAN translation Orr HT, Zoghbi HY (2007). "Trinucleotide repeat disorders"...
for its association to TMEM106B are those with a C90RF72 mutation (FTLD-C9ORF72). Two of the SNPs previously identified as risk factors for FTLD-GRN, rs1990622...
genuine Mendelian or monogenic disorder. Autosomal-dominant mutations in the C9orf72 and the SOD1 gene are found in a substantial number of familial ALS cases...
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