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).

Here, we review what is known about the C9ORF72 protein, how it is affected in C9-FTD/ALS, and explore the possible contribution of haploinsufficiency to the disease pathogenesis. The human chromosome 9 open reading frame 72 (C9ORF72) locus is located on the reverse strand of chromosome 9 (41 kb).

The C9orf72 gene provides instructions for making a protein that is found in various tissues. The protein is abundant in nerve cells (neurons) in the outer layers of the brain (cerebral cortex) and in specialized neurons in the brain and spinal cord that control movement (motor neurons).

2015年1月8日 · C9orf72 frontotemporal dementia and/or amyotrophic lateral sclerosis (C9orf72 -FTD/ALS) is characterized most often by frontotemporal dementia (FTD) and upper and lower motor neuron disease (MND); however, atypical presentations also occur.

2024年12月24日 · C9orf72 (C9orf72-SMCR8 Complex Subunit) is a Protein Coding gene. Diseases associated with C9orf72 include Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1 and Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7.

2021年5月5日 · This article reviews the current knowledge about the C9ORF72 protein, how it is affected by the repeat expansion in models and patients, and what could be the contribution of its haploinsufficiency to the disease in light of the most recent findings.

The C9orf72 protein is predicted to be a differentially expressed in normal and neoplastic cells domain protein implying that C9orf72 functions as a guanine nucleotide exchange factor (GEF) to regulate specific Rab GTPases.

The C9orf72 hexanucleotide expansion is one of the latest discovered repeat expansion disorders related to neurodegeneration. Its association with the FTD/ALS spectrum disorders is well established, and it is considered to be one of the leading ...

2018年8月17日 · In this article, we review the pathological and mechanistic features of C9orf72 -associated FTD and ALS (collectively termed C9FTD/ALS), the model systems used to study these conditions, and the...

2015年9月30日 · In 2011, two groups of researchers from the National Institutes of Health and the Mayo Clinic in Jacksonville simultaneously published findings implicating a mutation in the gene on human chromosome 9 open reading frame 72 (C9orf72) as a cause of many previously unexplainable cases of hereditary amyotrophic lateral sclerosis.