C9orf72 Protein

A widely-expressed guanine nucleotide exchange factor protein of approximately 400 to 500 amino acids. Its N-terminal region (DENN domain) interacts with RAB GTP-BINDING PROTEINS and may regulate AUTOPHAGY, as well as PROTEIN TRANSPORT to ENDOSOMES. Expansion of the GGGGCC hexanucleotide repeat in the first intron of the C9orf72 gene is associated with FRONTOTEMPORAL DEMENTIA with AMYOTROPHIC LATERAL SCLEROSIS (FTDALS1).

Also Known As:

Networked: 12 relevant articles (1 outcomes, 1 trials/studies)

Relationship Network

Bio-Agent Context: Research Results

Experts

1.	Robertson, Janice: 2 articles (01/2018 - 10/2015)
2.	Xiao, Shangxi: 2 articles (01/2018 - 10/2015)
3.	Amick, Joseph: 2 articles (01/2017 - 10/2016)
4.	Ferguson, Shawn M: 2 articles (01/2017 - 10/2016)
5.	Baloh, Robert H: 1 article (01/2021)
6.	Bell, Shaughn: 1 article (01/2021)
7.	Blurton-Jones, Mathew: 1 article (01/2021)
8.	Davtyan, Hayk: 1 article (01/2021)
9.	Geschwind, Daniel H: 1 article (01/2021)
10.	Ghaffari, Layla: 1 article (01/2021)

Related Diseases

1.	Frontotemporal Lobar Degeneration (Degeneration, Frontotemporal Lobar) 01/01/2018 - "Immunohistochemical detection of C9orf72 protein in frontotemporal lobar degeneration and motor neurone disease: patterns of immunostaining and an evaluation of commercial antibodies." 10/01/2015 - "Our antibodies have provided improved detection of C9orf72 protein isoforms, which will help elucidate its physiological function and role in ALS/FTLD."
2.	Neurodegenerative Diseases (Neurodegenerative Disease) 01/01/2012 - "The study by Satoh and colleagues in the previous issue of Alzheimer's Research & Therapy presents important new findings on C9orf72 protein expression in neurodegenerative disorders along with characterization of C9orf72 antibodies. "
3.	Amyotrophic Lateral Sclerosis (Lou Gehrig's Disease) 11/20/2019 - "C9ORF72 protein function and immune dysregulation in amyotrophic lateral sclerosis." 07/01/2014 - "Reduced C9orf72 protein levels in frontal cortex of amyotrophic lateral sclerosis and frontotemporal degeneration brain with the C9ORF72 hexanucleotide repeat expansion." 01/01/2017 - "The discovery that expansion of a hexanucleotide repeat within a noncoding region of the C9orf72 gene causes amyotrophic lateral sclerosis and frontotemporal dementia raised questions about C9orf72 protein function and potential disease relevance. " 02/01/2014 - "Recent works have demonstrated an expansion of the GGGGCC hexanucleotide repeat in the first intron of chromosome 9 open reading frame 72 (C9ORF72), encoding an unknown C9ORF72 protein, which was responsible for an unprecedented large proportion of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) cases of European ancestry. " 01/01/2023 - "A hexanucleotide (GGGGCC)n repeat expansion in C9orf72 causes amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD), eliciting toxic effects through generation of RNA foci, dipeptide repeat proteins, and/or loss of C9orf72 protein. "
4.	Frontotemporal Dementia (Semantic Dementia) 01/01/2018 - "C9orf72 Protein Plasmatic Concentrations Are Similar between C9ORF72 Expansion Carriers and Noncarriers in Frontotemporal Dementia." 01/01/2017 - "The discovery that expansion of a hexanucleotide repeat within a noncoding region of the C9orf72 gene causes amyotrophic lateral sclerosis and frontotemporal dementia raised questions about C9orf72 protein function and potential disease relevance. " 02/01/2014 - "Recent works have demonstrated an expansion of the GGGGCC hexanucleotide repeat in the first intron of chromosome 9 open reading frame 72 (C9ORF72), encoding an unknown C9ORF72 protein, which was responsible for an unprecedented large proportion of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) cases of European ancestry. " 01/01/2018 - "Plasmatic concentrations of C9orf72 protein were measured in 33 patients suspected of familial frontotemporal dementia using an enzyme-linked immunosorbent assay. " 01/01/2023 - "A hexanucleotide (GGGGCC)n repeat expansion in C9orf72 causes amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD), eliciting toxic effects through generation of RNA foci, dipeptide repeat proteins, and/or loss of C9orf72 protein. "
5.	Birt-Hogg-Dube Syndrome 10/15/2016 - "However, beyond bioinformatics predictions that suggested structural similarity to folliculin, the Birt-Hogg-Dubé syndrome tumor suppressor, little is known about the normal functions of the C9orf72 protein. "

Related Drugs and Biologics

1.	Antibodies
2.	Protein Isoforms (Isoforms)
3.	RNA (Ribonucleic Acid)
4.	Proteins (Proteins, Gene)
5.	Dipeptides
6.	Peptides (Polypeptides)
7.	Immunosorbents
8.	Enzymes

Related Therapies and Procedures

1.	Therapeutics