Anti-C9ORF72 (long form) Recom

C9orf72 (Chromosome 9 open reading frame 72) is a gene located on chromosome 9 that encodes a protein of unknown function, though its role has become a significant focus in neurological research. The gene gained attention due to its association with two major neurodegenerative diseases: amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). A hexanucleotide repeat expansion (GGGGCC) in the C9orf72 gene is the most common genetic cause of these disorders. This expansion leads to the production of toxic RNA and dipeptide repeat proteins that disrupt cellular function, contributing to neuronal damage. Research into C9orf72 has provided insights into the molecular mechanisms of ALS and FTD, with a focus on understanding how the gene's mutation causes neurodegeneration, and developing potential therapeutic strategies to address these conditions. Long form: The "long form" of C9orf72 generally refers to the normal, non-mutated version of the gene. In its typical state, the gene encodes a protein that is involved in regulating various cellular functions, including autophagy and vesicle trafficking, though the precise function of the protein is not fully understood.