C9orf72 Antibodies

Background

C9orf72 gene is a multifunctional protein coding gene widely expressed in human central nervous system and immune cells. This gene participates in key cellular processes such as autophagy regulation and membrane transport by generating different splicing variants. Its non-coding region hexonucleotide repeat amplification (GGGGCC) is the most common genetic pathogenic factor for amyotrophic lateral sclerosis and frontotemporal dementia.