C9orf72 Antibodies

Structure of C9orf72

The molecular weight of the protein encoded by the C9orf72 gene is approximately 54 kDa, and its precise weight varies among different transcript isomers. This protein contains 481 amino acids and regulates membrane transport and autophagy processes through its N-terminal DENN domain. The acidic amino acid regions rich in protein sequences may affect their interactions with other signaling molecules. The C9orf72 protein is highly expressed in neurons and immune cells. Its loss of function and hexonucleotide repeat amplification (GGGGCC) can both lead to intracellular homeostasis imbalance, which is closely related to the pathogenesis of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD).

Fig. 1 C9ORF72 functions implicated in ALS pathogenesis.¹

Key structural properties of C9orf72:

• Has the regulation of guanine nucleotide exchange key DENN structure domain
• Participate in the formation of autophagosomes and membrane transport signaling pathways
• Repeat amplification of the non-coding region GGGGCC resulted in the formation of RNA foci and toxic peptides
• Mutations cause neurodegeneration through a dual mechanism of haploid insufficiency and functional acquisition

Functions of C9orf72

The core function of the C9orf72 protein is to participate in the regulation of autophagy and membrane transport within cells, and its abnormal expression is also closely related to neurodegenerative diseases.

The function of the C9orf72 protein is achieved through the guanine nucleotide exchange activity mediated by its DENN domain. However, the GGGGCC repeat amplification mutation in the non-coding region of the gene can disrupt these functions through a dual mechanism of haploid deficiency and toxic gain, ultimately leading to the decline of motor neurons and cognitive function.

Applications of C9orf72 and C9orf72 Antibody in Literature

1. Chong, Zhao Zhong, and Nizar Souayah. "Targeting Gene C9orf72 Pathogenesis for Amyotrophic Lateral Sclerosis." International journal of molecular sciences 26.9 (2025): 4276. https://doi.org/10.3390/ijms26094276

The article indicates that the main mechanisms by which C9orf72 gene mutations lead to ALS include function-acquired toxicity caused by hexonucleotide repeat amplification (HRE) (such as RNA lesions and DPRs interfering with cell function) and autophagy disorders resulting from the loss of C9ORF72 protein function, etc. At present, the therapeutic effects for HRE are limited and further exploration is needed.

2. Xu, feng, et al. "Correlation between C9ORF72 mutation and neurodegenerative diseases: A comprehensive review of the literature." International Journal of Medical Sciences 18.2 (2021): 378. https://doi.org/10.7150/ijms.53550

The article indicates that the hexonucleotide repeat amplification of the C9orf72 gene is a key factor leading to amyotrophic lateral sclerosis/frontotemporal dementia (ALS/FTD), but its causal relationship with Alzheimer's disease and Parkinson's disease remains unclear. This article aims to review the pathogenic mechanism of C9orf72 in neurodegenerative diseases and explore therapeutic strategies targeting it.

3. Rossi, Simona, et al. "C9orf72 Toxic Species Affect ArfGAP-1 Function." Cells 12.15 (2023): 2007. https://doi.org/10.3390/cells12152007

The article indicates that the G4C2 repeat amplification of the C9orf72 gene can disrupt nuclear cytoplasmic transport, leading to abnormal retention of specific mrnas (especially membrane transportation-related mrnas) within the nucleus. Functional studies have shown that this toxicity specifically affects the retrograde vesicle transport from the Golgi apparatus to the endoplasmic reticulum regulated by ArfGAP-1, revealing a new mechanism of C9ORF72-induced ALS.

4. Jülg, Julia, Dieter Edbauer, and Christian Behrends. "C9orf72 protein quality control by UBR5‐mediated heterotypic ubiquitin chains." EMBO reports 24.8 (2023): e55895. https://doi.org/10.15252/embr.202255895

The article indicates that the C9orf72 protein forms a stable complex with SMCR8, and its haploid deficiency can cause disease. This study reveals that C9orf72 is a substrate for ubiquitin-proteasome degradation, while SMCR8 can protect it from degradation by K11/K48 ubiquitination chains mediated by UBR5, etc. This provides a new strategy for antagonizing the loss of function of C9orf72 in diseases.

5. Nagy, Zsófia Flóra, et al. "Beyond C9orf72: repeat expansions and copy number variations as risk factors of amyotrophic lateral sclerosis across various populations." BMC Medical Genomics 17.1 (2024): 30. https://doi.org/10.1186/s12920-024-01807-9

The article indicates that repeated amplification of the C9orf72 gene is the most common genetic cause of amyotrophic lateral sclerosis (ALS). With the development of gene sequencing technology, the focus of ALS genetic research has shifted from pathogenic genes to genetic susceptibility and risk factors. This article aims to review other repeat amplifications and copy number variations related to ALS, apart from C9orf72, and their phenotypic modification effects in different populations.

Creative Biolabs: C9orf72 Antibodies for Research

Creative Biolabs specializes in the production of high-quality C9orf72 antibodies for research and industrial applications. Our portfolio includes monoclonal antibodies tailored for ELISA, Flow Cytometry, Western blot, immunohistochemistry, and other diagnostic methodologies.

• Custom C9orf72 Antibody Development: Tailor-made solutions to meet specific research requirements.
• Bulk Production: Large-scale antibody manufacturing for industry partners.
• Technical Support: Expert consultation for protocol optimization and troubleshooting.
• Aliquoting Services: Conveniently sized aliquots for long-term storage and consistent experimental outcomes.

For more details on our C9orf72 antibodies, custom preparations, or technical support, contact us at email.